Annotation Detail
Information
- Associated Genes
- ABCG8
- Associated Variants
-
ABCB11 p.Val444Gly (p.V444G)
(
ENST00000650372.1 )
ABCB11 p.Val444Ala (p.V444A) ( ENST00000650372.1 )
ABCB11 p.Val444Asp (p.V444D) ( ENST00000650372.1 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCB4 p.Arg652Gly (p.R652G) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg652= (p.R652=) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Thr175Ala (p.T175A) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB11 p.Val444Gly (p.V444G) ( ENST00000650372.1 )
ABCB11 p.Val444Ala (p.V444A) ( ENST00000650372.1 )
ABCB11 p.Val444Asp (p.V444D) ( ENST00000650372.1 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCB4 p.Arg652Gly (p.R652G) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Arg652= (p.R652=) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 )
ABCB4 p.Thr175Ala (p.T175A) ( ENST00000265723.8, ENST00000359206.8, ENST00000453593.5, ENST00000649586.2 ) - Associated Disease
- Cholesterol gallstones
- Source Database
- DisGeNET
- Description
- 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.
- Pubmed
- 20163776
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2010
Drugs