Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
0.030 GeneticVariation BEFREE A second ABC transporter, the hepatic phosphatidylcholine translocase ABCB4, increases the risk for gallstone disease, gallbladder cancer and chronic liver diseases in general, whereas the common PNPLA3 risk variant p.I148M decreases gallstone risk. 30608254

2019

Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
0.030 GeneticVariation BEFREE We describe associations that may predict ADEs, e.g., acne, high cholesterol, gout, and gallstones with rs738409 (rs738409" genes_norm="80339">p.I148M) in PNPLA3 and asthma with rs1990760 (p.T946A) in IFIH1. 30327483

2018

Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
0.030 AlteredExpression BEFREE After adjustment for multiple testing, we detected a trend for an association between triglyceride levels and variant adiponutrin in gallstone patients (P=0.032), and gallstone cases carrying the genotype [CC] presented with significantly higher triglyceride levels than the corresponding controls (P<0.003). 21893698

2011