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
Moreover, we genotyped the same patients for the patatin-like phospholipase-containing domain 3 (PNPLA3) I148M polymorphism, which is implicated in the development of liver steatosis.
Pubmed
25250621
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00922902365073031
Year of publication
2015
Drugs