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
- Steatohepatitis
- Source Database
- DisGeNET
- Description
- A single nucleotide polymorphism (SNP), the rs738409, in the patatin like phospholipase 3 gene (PNPLA3) has been recently associated with increased hepatic steatosis and ALT levels in adults and children.
- Pubmed
- 22629460
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00922902365073031
- Year of publication
- 2012
Drugs