| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.070 | GeneticVariation | disease | BEFREE | Risk trait of cholesterol metabolism (low phytosterols) in childhood favouring cholesterol gallstone disease later in adulthood is influenced by risk variant 19H of ABCG8 and obviously also other factors. | 29764733 | 2018 | ||||
|
0.070 | 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 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | The sterolin locus (ABCG5/ABCG8) confers susceptibility for cholesterol gallstone disease in humans. | 22898925 | 2013 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | In conclusion, our muti-analytical approach suggests that, ESR1, ADRB3, in addition to ABCG8 genetic variants confer significant risk for cholesterol gallstone disease. | 23577061 | 2013 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Studies have identified single nucleotide polymorphisms (SNP) D19H and T400K in the cholesterol transporter gene ATP-binding cassette, subfamily G, member 8 (ABCG8) in patients with cholesterol gallstones. | 20594224 | 2010 | ||||
|
0.070 | 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 | ||||
|
0.070 | Biomarker | disease | BEFREE | Insulin resistance elevates G5G8 and increases susceptibility to cholesterol gallstones. | 19306529 | 2009 |