HNF4A, hepatocyte nuclear factor 4 alpha, 3172

N. diseases: 340; N. variants: 74
Disease: Cholecystolithiasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.020 GeneticVariation disease BEFREE Five of the gallstone associations are protein-altering variants, and three (HNF4A p.Thr139Ile, SERPINA1 p.Glu366Lys, and SLC10A2 p.Pro290Ser) conferred per-allele odds ratios for gallstone disease of 1.30-1.36. 30325047 2019
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.020 AlteredExpression disease BEFREE Expression of PGC-1 was linearly correlated with farnesoid X receptor (FXR) in gallstone patients (r = 0.87 on a log scale, P < 0.01), but not in control subjects; in gallstone patients PGC-1 expression was also correlated with hepatocyte nuclear factor 4 (HNF-4) (r = 0.78, P < 0.01). 16506961 2006