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
The adiponutrin/PNPLA3 (patatin-like phospholipase domain-containing protein 3) variant I148M has recently emerged as an important marker of human fatty liver disease.
Pubmed
21145868
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.162529292613064
Year of publication
2011
Drugs