Cholelithiasis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS). (Experimental Factor Ontology, EFO_0004799)
External Link https://www.disgenet.org/browser/0/1/0/C0008350
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Genes

241 genes associated with the disease Cholelithiasis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3
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
ACAT2 acetyl-CoA acetyltransferase 2
ACVRL1 activin A receptor type II-like 1
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB3 adrenoceptor beta 3
AIRE autoimmune regulator
ALB albumin
ALDOA aldolase A, fructose-bisphosphate
ANK1 ankyrin 1, erythrocytic
APC adenomatous polyposis coli
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOB apolipoprotein B
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
APOC1 apolipoprotein C-I
APOE apolipoprotein E
AR androgen receptor
ARSA arylsulfatase A
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASPG asparaginase
ATP11A ATPase, class VI, type 11A
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BAZ2B bromodomain adjacent to zinc finger domain, 2B
BLVRA biliverdin reductase A
BMF Bcl2 modifying factor
BPGM 2,3-bisphosphoglycerate mutase
CA10 carbonic anhydrase X
CAT catalase
CCK cholecystokinin
CCKAR cholecystokinin A receptor
CCL28 chemokine (C-C motif) ligand 28
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD36 CD36 molecule (thrombospondin receptor)
CDHR5 cadherin-related family member 5
CDK4 cyclin-dependent kinase 4
CDX2 caudal type homeobox 2
CETP cholesteryl ester transfer protein, plasma
CHD1L chromodomain helicase DNA binding protein 1-like
CLDN2 claudin 2
CLDN3 claudin 3
CLIC1 chloride intracellular channel 1
CLIP2 CAP-GLY domain containing linker protein 2
COMT catechol-O-methyltransferase
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CRP C-reactive protein, pentraxin-related
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXCL16 chemokine (C-X-C motif) ligand 16
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1
DACH1 dachshund family transcription factor 1
DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
DMPK dystrophia myotonica-protein kinase
DPEP1 dipeptidase 1 (renal)
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ENG endoglin
EPB41 erythrocyte membrane protein band 4.1
EPB42 erythrocyte membrane protein band 4.2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FABP2 fatty acid binding protein 2, intestinal
FABP6 fatty acid binding protein 6, ileal
FAIM2 Fas apoptotic inhibitory molecule 2
FECH ferrochelatase
FEN1 flap structure-specific endonuclease 1
FGF19 fibroblast growth factor 19
FGFR4 fibroblast growth factor receptor 4
FMO3 flavin containing monooxygenase 3
FRMD4A FERM domain containing 4A
G6PD glucose-6-phosphate dehydrogenase
GCG glucagon
GCGR glucagon receptor
GDF2 growth differentiation factor 2
GGTLC1 gamma-glutamyltransferase light chain 1
GLP1R glucagon-like peptide 1 receptor
GLP2R glucagon-like peptide 2 receptor
GNA14 guanine nucleotide binding protein (G protein), alpha 14
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPER1 G protein-coupled estrogen receptor 1
GPR35 G protein-coupled receptor 35
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GPX1 glutathione peroxidase 1
GPX3 glutathione peroxidase 3
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
GYPC glycophorin C (Gerbich blood group)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIRA histone cell cycle regulator
HK1 hexokinase 1
HLA-A major histocompatibility complex, class I, A
HMCN1 hemicentin 1
HMGB1 high mobility group box 1
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase
HMOX1 heme oxygenase 1
HNF4A hepatocyte nuclear factor 4, alpha
IFIH1 interferon induced with helicase C domain 1
IL10 interleukin 10
IL13 interleukin 13
IL18 interleukin 18
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL6 interleukin 6
JMJD1C jumonji domain containing 1C
KRT18 keratin 18, type I
L3MBTL4 l(3)mbt-like 4 (Drosophila)
LCN2 lipocalin 2
LDLR low density lipoprotein receptor
LEP leptin
LEPR leptin receptor
LIMK1 LIM domain kinase 1
LIX1 Lix1 homolog (chicken)
LOC101060233 medium-wave-sensitive opsin 1
LOC102724197 inactive gamma-glutamyltranspeptidase 2-like
LRP2 low density lipoprotein receptor-related protein 2
LRPAP1 low density lipoprotein receptor-related protein associated protein 1
MAP2K5 mitogen-activated protein kinase kinase 5
MAP3K8 mitogen-activated protein kinase kinase kinase 8
MBNL1 muscleblind-like splicing regulator 1
MC4R melanocortin 4 receptor
MECP2 methyl CpG binding protein 2
MICA MHC class I polypeptide-related sequence A
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MST1 macrophage stimulating 1
MUC1 mucin 1, cell surface associated
MUC2 mucin 2, oligomeric mucus/gel-forming
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYO10 myosin X
MYPN myopalladin
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NOS2 nitric oxide synthase 2, inducible
NPC1L1 NPC1-like 1
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR1H4 nuclear receptor subfamily 1, group H, member 4
NRXN3 neurexin 3
OGG1 8-oxoguanine DNA glycosylase
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2
OR10A4 olfactory receptor, family 10, subfamily A, member 4
PCSK9 proprotein convertase subtilisin/kexin type 9
PEX19 peroxisomal biogenesis factor 19
PFKM phosphofructokinase, muscle
PKLR pyruvate kinase, liver and RBC
PLA2G10 phospholipase A2, group X
PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid)
PNPLA3 patatin-like phospholipase domain containing 3
POT1 protection of telomeres 1
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RBP4 retinol binding protein 4, plasma
RETN resistin
RFC2 replication factor C (activator 1) 2, 40kDa
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
RPL4 ribosomal protein L4
RREB1 ras responsive element binding protein 1
S100A8 S100 calcium binding protein A8
SEC23B Sec23 homolog B (S. cerevisiae)
SEC24C SEC24 family member C
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5
SGCZ sarcoglycan, zeta
SH2D4B SH2 domain containing 4B
SHBG sex hormone-binding globulin
SHH sonic hedgehog
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
SLC22A7 solute carrier family 22 (organic anion transporter), member 7
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC51B solute carrier family 51, beta subunit
SLCO1A2 solute carrier organic anion transporter family, member 1A2
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SMAD4 SMAD family member 4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOD1 superoxide dismutase 1, soluble
SORT1 sortilin 1
SPINK1 serine peptidase inhibitor, Kazal type 1
SPP1 secreted phosphoprotein 1
SPTA1 spectrin, alpha, erythrocytic 1
SPTB spectrin, beta, erythrocytic
SST somatostatin
ST8SIA4 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
STX12 syntaxin 12
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1
TANC1 tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCF4 transcription factor 4
TGFB1 transforming growth factor, beta 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMEM114 transmembrane protein 114
TNC tenascin C
TNF tumor necrosis factor
TP53 tumor protein p53
TPI1 triosephosphate isomerase 1
TRAF3 TNF receptor-associated factor 3
UFD1 ubiquitin recognition factor in ER associated degradation 1
UGGT1 UDP-glucose glycoprotein glucosyltransferase 1
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4
UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9
UROS uroporphyrinogen III synthase
VEGFA vascular endothelial growth factor A
VIPR1 vasoactive intestinal peptide receptor 1
XPC xeroderma pigmentosum, complementation group C
XPR1 xenotropic and polytropic retrovirus receptor 1
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
ZGLP1 zinc finger, GATA-like protein 1
ZNF28 zinc finger protein 28