Annotation Detail
Information
- Associated Genes
- PNPLA3
- Associated Variants
-
PNPLA3 p.Ile148Met (p.I148M)
(
ENST00000216180.8,
ENST00000423180.2 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 ) - Associated Disease
- Alcoholic Liver Diseases
- Source Database
- DisGeNET
- Description
- Recent genome-wide association studies have identified the variant p.I148M of the adiponutrin gene PNPLA3 as a risk factor for developing severe forms of non-alcoholic and alcoholic liver diseases.
- Pubmed
- 21168459
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.127448482678007
- Year of publication
- 2011
Drugs