Cholelithiasis Gene Set

Dataset DISEASES Experimental 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

62 genes associated with the disease Cholelithiasis in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
UGT1A6 UDP glucuronosyltransferase 1 family, polypeptide A6 1.979
UGT1A7 UDP glucuronosyltransferase 1 family, polypeptide A7 1.979
MROH2A maestro heat-like repeat family member 2A 1.979
UGT1A4 UDP glucuronosyltransferase 1 family, polypeptide A4 1.979
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9 1.979
UGT1A8 UDP glucuronosyltransferase 1 family, polypeptide A8 1.979
HJURP Holliday junction recognition protein 1.979
UGT1A10 UDP glucuronosyltransferase 1 family, polypeptide A10 1.979
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 1.979
WWTR1 WW domain containing transcription regulator 1 1.488
TM4SF4 transmembrane 4 L six family member 4 1.488
LRPPRC leucine-rich pentatricopeptide repeat containing 1.211
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8 1.211
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1 1.211
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5 1.211
PLEKHH2 pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 1.211
NSMAF neutral sphingomyelinase (N-SMase) activation associated factor 1.153
SDCBP syndecan binding protein (syntenin) 1.153
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1 1.153
UBXN2B UBX domain protein 2B 1.153
CPS1 carbamoyl-phosphate synthase 1, mitochondrial 1.079
RASIP1 Ras interacting protein 1 0.99
SACK1E scaffolding CK1 anchoring protein E 0.99
FGF21 fibroblast growth factor 21 0.99
MAMSTR MEF2 activating motif and SAP domain containing transcriptional regulator 0.99
CA11 carbonic anhydrase XI 0.99
RPL18 ribosomal protein L18 0.99
IZUMO1 izumo sperm-egg fusion 1 0.99
BCAT2 branched chain amino-acid transaminase 2, mitochondrial 0.99
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 0.99
NTN5 netrin 5 0.99
DBP D site of albumin promoter (albumin D-box) binding protein 0.99
FUT2 fucosyltransferase 2 (secretor status included) 0.99
SPACA4 sperm acrosome associated 4 0.99
SPHK2 sphingosine kinase 2 0.99
REEP3 receptor accessory protein 3 0.791
JMJD1C jumonji domain containing 1C 0.791
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa 0.779
DUS3L dihydrouridine synthase 3-like (S. cerevisiae) 0.779
CATSPERD catsper channel auxiliary subunit delta 0.779
CAPS calcyphosine 0.779
RANBP3 RAN binding protein 3 0.779
FUT6 fucosyltransferase 6 (alpha (1,3) fucosyltransferase) 0.779
NRTN neurturin 0.779
VMAC vimentin-type intermediate filament associated coiled-coil protein 0.779
PRR22 proline rich 22 0.779
FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 0.779
FUT5 fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 0.779
VPS13B vacuolar protein sorting 13 homolog B (yeast) 0.677
DCLK2 doublecortin-like kinase 2 0.656
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 0.656
MAB21L2 mab-21-like 2 (C. elegans) 0.656
TNRC6B trinucleotide repeat containing 6B 0.638
PTPN3 protein tyrosine phosphatase, non-receptor type 3 0.638
ANO1 anoctamin 1, calcium activated chloride channel 0.638
ADSL adenylosuccinate lyase 0.638
FGF3 fibroblast growth factor 3 0.638
CROT carnitine O-octanoyltransferase 0.638
SGSM3 small G protein signaling modulator 3 0.638
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 0.638
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4 0.638
MRTFA myocardin related transcription factor A 0.638