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
The human patatin-like phospholipase domain-containing-3 (PNPLA3) gene rs738409 C>G polymorphism is associated with several types of liver disease.
Pubmed
25378656
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0075244275481278
Year of publication
2015
Drugs