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
- Liver diseases
- Source Database
- DisGeNET
- Description
- Various studies have established a strong link between the 148 isoleucine to methionine protein variant (I148M) of PNPLA3 and liver diseases, including nonalcoholic fatty liver disease (NAFLD).
- Pubmed
- 25624712
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0075244275481278
- Year of publication
- 2014
Drugs