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
- Fatty Liver
- Source Database
- DisGeNET
- Description
- A single genetic variant, PNPLA3 I148M, has been widely associated with increased hepatic steatosis.
- Pubmed
- 22978414
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.162529292613064
- Year of publication
- 2012
Drugs