Cholesterol Gallstones Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. (Human Phenotype Ontology, HP_0011980)
External Link https://www.disgenet.org/browser/0/1/0/C0856727
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
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
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB3 adrenoceptor beta 3
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOE apolipoprotein E
ATAD1 ATPase family, AAA domain containing 1
CCK cholecystokinin
CCKAR cholecystokinin A receptor
CETP cholesteryl ester transfer protein, plasma
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CLDN2 claudin 2
CLDN3 claudin 3
CPE carboxypeptidase E
CTRC chymotrypsin C (caldecrin)
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
ESR1 estrogen receptor 1
GUSB glucuronidase, beta
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HNF1A HNF1 homeobox A
NPC1L1 NPC1-like 1
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR1I3 nuclear receptor subfamily 1, group I, member 3
PLA2G1B phospholipase A2, group IB (pancreas)
PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLB1 phospholipase B1
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PRKCB protein kinase C, beta
PRSS1 protease, serine, 1 (trypsin 1)
RBP4 retinol binding protein 4, plasma
SCP2 sterol carrier protein 2
SEC14L2 SEC14-like 2 (S. cerevisiae)
SIRT1 sirtuin 1
SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
SPINK1 serine peptidase inhibitor, Kazal type 1
SPP1 secreted phosphoprotein 1
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
XPR1 xenotropic and polytropic retrovirus receptor 1
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta