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 Cirrhosis, Alcoholic
Source Database
DisGeNET
Description
The absence of an association of PNPLA3 p.I148M with alcoholic CP seems not to point to a common pathway in the development of alcoholic CP and alcoholic liver cirrhosis.
Pubmed
22276112
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.126905598933846
Year of publication
2012
Drugs