| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.160 | AlteredExpression | disease | BEFREE | In PS bile acid concentration correlated with gallstone plant sterols (R = 0.83, P < 0.0001), and ABCG5 expression with ABCB11 expression (R = 0.27, P = 0.03). | 31169656 | 2019 | ||||
|
0.160 | GeneticVariation | disease | BEFREE | Variations of the ABCB4 and ABCB11 genes affect the composition of bile and are associated with cholestasis and cholelithiasis. | 25323205 | 2015 | ||||
|
0.160 | GeneticVariation | disease | BEFREE | Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional family members). | 24914347 | 2014 | ||||
|
0.160 | GeneticVariation | disease | BEFREE | In our study we investigated the contribution of heterozygosity for common variations considered either potentially pathogenic or susceptibility alleles for cholesterol cholelithiasis in adults (c.523A>G (p.Thr175Ala) and c.1954A>G (p.Arg652Gly) in ABCB4, c.1331T>C (p.Val444Ala) in ABCB11 and c.55 G>C (p.Asp19His) in ABCG8) to the aetiology of paediatric idiopathic gallstone disease. | 20163776 | 2010 | ||||
|
0.160 | AlteredExpression | disease | BEFREE | Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls. | 19408031 | 2009 | ||||
|
0.160 | Biomarker | disease | BEFREE | This study was undertaken to investigate LXRA and ABCB11 as candidate genes for gallstone disease in humans. | 16941683 | 2006 | ||||
|
0.160 | Biomarker | disease | HPO |