Annotation Detail

Information
Associated Genes
PNPLA3
Associated Variants
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
AGTR1 c.-48+10558T>C ( ENST00000349243.8, ENST00000404754.2, ENST00000418473.7, ENST00000497524.5 )
AGTR1 c.-48+14340A>G ( ENST00000349243.8, ENST00000404754.2, ENST00000418473.7, ENST00000497524.5 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
AGTR1 c.-48+10558T>C ( ENST00000349243.8, ENST00000404754.2, ENST00000418473.7, ENST00000497524.5 )
AGTR1 c.-48+14340A>G ( ENST00000349243.8, ENST00000404754.2, ENST00000418473.7, ENST00000497524.5 )
Associated Disease
Non-alcoholic Fatty Liver Disease
Source Database
DisGeNET
Description
Gene-gene interaction between the AGTR1 gene and the patatin-like phospholipase domain-containing 3 (PNPLA3) gene, which we previously reported as associated with NAFLD in this sample, showed a strong interaction between AGTR1 (rs3772627), AGTRI (rs3772630) and PNPLA3 (rs738409) polymorphisms on NAFLD susceptibility (p = 0.007).
Pubmed
23484035
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.264896707361267
Year of publication
2013
Drugs