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 carcinoma
Source Database
DisGeNET
Description
PNPLA3 I148M variant and hepatocellular carcinoma: a common genetic variant for a rare disease.
Pubmed
23333103
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00570027931368637
Year of publication
2012
Drugs