Cholelithiasis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
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)
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Genes

321 genes co-occuring with the disease Cholelithiasis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 3.103
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 2.919
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11 2.721
SST somatostatin 2.697
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 2.593
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 2.57
NR1H4 nuclear receptor subfamily 1, group H, member 4 2.513
CRP C-reactive protein, pentraxin-related 2.47
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 2.455
CCK cholecystokinin 2.448
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 2.433
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1 2.429
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 2.416
ALB albumin 2.386
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 2.364
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 2.364
INS insulin 2.357
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 2.355
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 2.352
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 2.345
GCG glucagon 2.308
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5 2.263
F2 coagulation factor II (thrombin) 2.205
ATP4A ATPase, H+/K+ exchanging, alpha polypeptide 2.19
ATP12A ATPase, H+/K+ transporting, nongastric, alpha polypeptide 2.189
GAST gastrin 2.184
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2 2.16
GPBAR1 G protein-coupled bile acid receptor 1 2.143
CCKAR cholecystokinin A receptor 2.129
GLP1R glucagon-like peptide 1 receptor 2.098
EPB42 erythrocyte membrane protein band 4.2 2.086
SPTB spectrin, beta, erythrocytic 2.026
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1.999
CHGA chromogranin A 1.996
SCT secretin 1.994
SLC51A solute carrier family 51, alpha subunit 1.984
FGF19 fibroblast growth factor 19 1.969
CYP8B1 cytochrome P450, family 8, subfamily B, polypeptide 1 1.954
SSTR5 somatostatin receptor 5 1.938
APOB apolipoprotein B 1.935
SPTA1 spectrin, alpha, erythrocytic 1 1.934
PPY pancreatic polypeptide 1.918
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase 1.918
AFP alpha-fetoprotein 1.906
NPC1L1 NPC1-like 1 1.897
IGF1 insulin-like growth factor 1 (somatomedin C) 1.887
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1.87
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 1.869
VIP vasoactive intestinal peptide 1.864
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) 1.862
MLN motilin 1.853
IL6 interleukin 6 1.849
SYP synaptophysin 1.842
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1 1.841
F3 coagulation factor III (thromboplastin, tissue factor) 1.841
LEP leptin 1.819
POMC proopiomelanocortin 1.798
KRT7 keratin 7, type II 1.79
FABP6 fatty acid binding protein 6, ileal 1.789
SLC51B solute carrier family 51, beta subunit 1.786
SSTR2 somatostatin receptor 2 1.783
NR0B2 nuclear receptor subfamily 0, group B, member 2 1.779
CP ceruloplasmin (ferroxidase) 1.766
SPINK1 serine peptidase inhibitor, Kazal type 1 1.765
HP haptoglobin 1.761
TTC39B tetratricopeptide repeat domain 39B 1.75
ANK1 ankyrin 1, erythrocytic 1.739
SSTR1 somatostatin receptor 1 1.734
PPARA peroxisome proliferator-activated receptor alpha 1.734
PRSS1 protease, serine, 1 (trypsin 1) 1.731
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1 1.73
DPP4 dipeptidyl-peptidase 4 1.727
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1 1.724
GIP gastric inhibitory polypeptide 1.722
TNF tumor necrosis factor 1.717
SLCO1A2 solute carrier organic anion transporter family, member 1A2 1.715
PNLIP pancreatic lipase 1.707
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 1.704
MUC5AC mucin 5AC, oligomeric mucus/gel-forming 1.698
TJP2 tight junction protein 2 1.698
FGFR4 fibroblast growth factor receptor 4 1.667
PTH parathyroid hormone 1.656
SLCO1B1 solute carrier organic anion transporter family, member 1B1 1.654
PDPN podoplanin 1.654
CYP39A1 cytochrome P450, family 39, subfamily A, polypeptide 1 1.651
MEN1 multiple endocrine neoplasia I 1.647
IL1B interleukin 1, beta 1.645
APOA1 apolipoprotein A-I 1.639
USP53 ubiquitin specific peptidase 53 1.635
ACE angiotensin I converting enzyme 1.622
GHRL ghrelin/obestatin prepropeptide 1.614
NR1I2 nuclear receptor subfamily 1, group I, member 2 1.613
TP53 tumor protein p53 1.612
UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4 1.609
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3 1.604
HBE1 hemoglobin, epsilon 1 1.604
MYO5B myosin VB 1.604
SLC4A2 solute carrier family 4 (anion exchanger), member 2 1.587
ADIPOQ adiponectin, C1Q and collagen domain containing 1.58
MUC1 mucin 1, cell surface associated 1.577
KRAS Kirsten rat sarcoma viral oncogene homolog 1.562
UGT2B11 UDP glucuronosyltransferase 2 family, polypeptide B11 1.56
XPR1 xenotropic and polytropic retrovirus receptor 1 1.56
UGT1A5 UDP glucuronosyltransferase 1 family, polypeptide A5 1.558
KRT19 keratin 19, type I 1.556
HBB hemoglobin, beta 1.545
PYY peptide YY 1.54
UGT2A3 UDP glucuronosyltransferase 2 family, polypeptide A3 1.537
UGT2B15 UDP glucuronosyltransferase 2 family, polypeptide B15 1.533
MUC2 mucin 2, oligomeric mucus/gel-forming 1.529
CDX2 caudal type homeobox 2 1.525
UGT2B28 UDP glucuronosyltransferase 2 family, polypeptide B28 1.52
UGT2A2 UDP glucuronosyltransferase 2 family, polypeptide A2 1.519
UGT2B17 UDP glucuronosyltransferase 2 family, polypeptide B17 1.515
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 1.514
UGT2B10 UDP glucuronosyltransferase 2 family, polypeptide B10 1.514
GHR growth hormone receptor 1.51
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 1.506
LPL lipoprotein lipase 1.502
UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7 1.499
FECH ferrochelatase 1.498
ALPI alkaline phosphatase, intestinal 1.496
SSTR4 somatostatin receptor 4 1.494
CD34 CD34 molecule 1.493
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2 1.49
CTRC chymotrypsin C (caldecrin) 1.486
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 1.484
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4 1.481
KRT20 keratin 20, type I 1.481
NCAM1 neural cell adhesion molecule 1 1.477
ALPG alkaline phosphatase, germ cell 1.47
CD4 CD4 molecule 1.465
PRSS58 protease, serine, 58 1.462
ENO2 enolase 2 (gamma, neuronal) 1.453
LDLR low density lipoprotein receptor 1.445
GGTLC3 gamma-glutamyltransferase light chain 3 1.433
GGT1 gamma-glutamyltransferase 1 1.423
APOE apolipoprotein E 1.416
MC4R melanocortin 4 receptor 1.413
KLB klotho beta 1.412
PRL prolactin 1.411
MUC6 mucin 6, oligomeric mucus/gel-forming 1.409
ALPP alkaline phosphatase, placental 1.401
PCSK9 proprotein convertase subtilisin/kexin type 9 1.399
CDAN1 codanin 1 1.395
IL10 interleukin 10 1.395
CKMT1B creatine kinase, mitochondrial 1B 1.385
TGFB1 transforming growth factor, beta 1 1.385
MME membrane metallo-endopeptidase 1.384
SCARB1 scavenger receptor class B, member 1 1.383
CKB creatine kinase, brain 1.382
SLCO1B3 solute carrier organic anion transporter family, member 1B3 1.381
CKM creatine kinase, muscle 1.381
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2 1.38
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.379
CXCL8 chemokine (C-X-C motif) ligand 8 1.369
SMAD4 SMAD family member 4 1.369
ESR1 estrogen receptor 1 1.368
REN renin 1.363
LPA lipoprotein, Lp(a) 1.361
AAAS achalasia, adrenocortical insufficiency, alacrimia 1.358
ALPL alkaline phosphatase, liver/bone/kidney 1.347
EGFR epidermal growth factor receptor 1.346
SREBF2 sterol regulatory element binding transcription factor 2 1.342
CELA3B chymotrypsin-like elastase family, member 3B 1.338
LIPC lipase, hepatic 1.335
TLR4 toll-like receptor 4 1.333
CD8A CD8a molecule 1.333
ERBB2 erb-b2 receptor tyrosine kinase 2 1.328
SCNN1G sodium channel, non voltage gated 1 gamma subunit 1.327
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.326
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 1.325
CCL28 chemokine (C-C motif) ligand 28 1.324
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1.31
SEC23B Sec23 homolog B (S. cerevisiae) 1.307
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.307
FUT2 fucosyltransferase 2 (secretor status included) 1.302
FGFR2 fibroblast growth factor receptor 2 1.293
PIEZO1 piezo-type mechanosensitive ion channel component 1 1.291
GHRH growth hormone releasing hormone 1.29
PPARG peroxisome proliferator-activated receptor gamma 1.29
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1.289
ZNF737 zinc finger protein 737 1.287
NUP210 nucleoporin 210kDa 1.286
AQP8 aquaporin 8 1.284
APOC2 apolipoprotein C-II 1.283
G6PD glucose-6-phosphate dehydrogenase 1.281
ACE2 angiotensin I converting enzyme 2 1.276
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive) 1.272
PXDN peroxidasin 1.268
MTTP microsomal triglyceride transfer protein 1.267
PXDNL peroxidasin-like 1.264
NF1 neurofibromin 1 1.263
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.258
IL1A interleukin 1, alpha 1.257
PPIG peptidylprolyl isomerase G (cyclophilin G) 1.254
CELA1 chymotrypsin-like elastase family, member 1 1.253
EPO erythropoietin 1.249
HBS1L HBS1-like translational GTPase 1.248
HAMP hepcidin antimicrobial peptide 1.248
MUC4 mucin 4, cell surface associated 1.247
CETP cholesteryl ester transfer protein, plasma 1.244
ACTB actin, beta 1.242
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.239
SSTR3 somatostatin receptor 3 1.236
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.234
IFNG interferon, gamma 1.231
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 1.224
CDKN2A cyclin-dependent kinase inhibitor 2A 1.218
MUC5B mucin 5B, oligomeric mucus/gel-forming 1.217
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 1.213
TTR transthyretin 1.212
PNPLA3 patatin-like phospholipase domain containing 3 1.21
NR1I3 nuclear receptor subfamily 1, group I, member 3 1.205
AGAP4 ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 1.203
CD68 CD68 molecule 1.199
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 1.198
TM4SF4 transmembrane 4 L six family member 4 1.192
APOA2 apolipoprotein A-II 1.191
MPO myeloperoxidase 1.19
JUN jun proto-oncogene 1.188
SI sucrase-isomaltase (alpha-glucosidase) 1.187
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 1.182
FGF4 fibroblast growth factor 4 1.18
FGF10 fibroblast growth factor 10 1.176
IL17A interleukin 17A 1.171
IL2 interleukin 2 1.166
SREBF1 sterol regulatory element binding transcription factor 1 1.166
IL4 interleukin 4 1.164
MGAM maltase-glucoamylase 1.163
KRT18 keratin 18, type I 1.163
FGF5 fibroblast growth factor 5 1.162
BAAT bile acid CoA:amino acid N-acyltransferase 1.162
FGF7 fibroblast growth factor 7 1.162
FGF22 fibroblast growth factor 22 1.161
NTS neurotensin 1.159
APOC3 apolipoprotein C-III 1.158
LEPR leptin receptor 1.158
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 1.157
TAC1 tachykinin, precursor 1 1.157
ARID1A AT rich interactive domain 1A (SWI-like) 1.156
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1.155
SHBG sex hormone-binding globulin 1.153
FGF21 fibroblast growth factor 21 1.15
FGF6 fibroblast growth factor 6 1.147
FGF16 fibroblast growth factor 16 1.147
LIPF lipase, gastric 1.146
FGF3 fibroblast growth factor 3 1.145
FGF20 fibroblast growth factor 20 1.145
RETN resistin 1.143
FGF17 fibroblast growth factor 17 1.143
ANO1 anoctamin 1, calcium activated chloride channel 1.143
FGF18 fibroblast growth factor 18 1.139
CCKBR cholecystokinin B receptor 1.138
FGF8 fibroblast growth factor 8 (androgen-induced) 1.136
ACLY ATP citrate lyase 1.135
FGF9 fibroblast growth factor 9 1.13
ATP7B ATPase, Cu++ transporting, beta polypeptide 1.129
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 1.123
NR5A2 nuclear receptor subfamily 5, group A, member 2 1.123
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 1.12
NPY neuropeptide Y 1.119
ZFYVE19 zinc finger, FYVE domain containing 19 1.119
EPB41 erythrocyte membrane protein band 4.1 1.117
ALAS2 5'-aminolevulinate synthase 2 1.116
RETNLB resistin like beta 1.116
CPA1 carboxypeptidase A1 (pancreatic) 1.112
TM6SF2 transmembrane 6 superfamily member 2 1.104
BRAF B-Raf proto-oncogene, serine/threonine kinase 1.1
IAPP islet amyloid polypeptide 1.098
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 1.098
HBG2 hemoglobin, gamma G 1.098
AGAP9 ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 1.097
BCL2 B-cell CLL/lymphoma 2 1.096
SP100 SP100 nuclear antigen 1.093
CD274 CD274 molecule 1.092
PKM pyruvate kinase, muscle 1.09
KIF12 kinesin family member 12 1.089
SEC63 SEC63 homolog (S. cerevisiae) 1.082
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 1.076
HFE hemochromatosis 1.07
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 1.067
NOTCH2 notch 2 1.067
GLP2R glucagon-like peptide 2 receptor 1.066
CDC50A cell division cycle 50 P4-ATPase accessory subunit A 1.06
NR1H3 nuclear receptor subfamily 1, group H, member 3 1.059
PBRM1 polybromo 1 1.057
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 1.054
ZNF549 zinc finger protein 549 1.051
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 1.051
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4 1.05
MGMT O-6-methylguanine-DNA methyltransferase 1.05
SLC27A2 solute carrier family 27 (fatty acid transporter), member 2 1.047
ANGPTL3 angiopoietin-like 3 1.042
PGR progesterone receptor 1.042
TGM2 transglutaminase 2 1.041
ACTA1 actin, alpha 1, skeletal muscle 1.039
ALK anaplastic lymphoma receptor tyrosine kinase 1.038
HNF4A hepatocyte nuclear factor 4, alpha 1.035
IFNA1 interferon, alpha 1 1.034
JAG1 jagged 1 1.031
ESR2 estrogen receptor 2 (ER beta) 1.031
CHIT1 chitinase 1 (chitotriosidase) 1.029
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 1.026
S100A8 S100 calcium binding protein A8 1.025
LMF1 lipase maturation factor 1 1.02
HBD hemoglobin, delta 1.019
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 1.018
EGF epidermal growth factor 1.013
CDH1 cadherin 1, type 1, E-cadherin (epithelial) 1.011
TM7SF3 transmembrane 7 superfamily member 3 1.01
TLR2 toll-like receptor 2 1.009
VCAM1 vascular cell adhesion molecule 1 1.009
GUSB glucuronidase, beta 1.009
ACTG2 actin, gamma 2, smooth muscle, enteric 1.006
MLH1 mutL homolog 1 1.005
CAPZA3 capping protein (actin filament) muscle Z-line, alpha 3 1.005
APOA5 apolipoprotein A-V 1.004
MIPEP mitochondrial intermediate peptidase 1.004
AGRP agouti related neuropeptide 1.003
CCND1 cyclin D1 1.002