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
- Non-alcoholic Fatty Liver Disease
- Source Database
- DisGeNET
- Description
- The common PNPLA3 (adiponutrin) variant p.I148M represents a major genetic driver of progression in non-alcoholic fatty liver disease (NAFLD).
- Pubmed
- 24689094
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.264896707361267
- Year of publication
- 2015
Drugs