Annotation Detail

Information
Associated Genes
IFNL3
Associated Variants
IFNL4 c.151-152G>A ( ENST00000606380.2 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
EGF c.-382A>G ( ENST00000265171.10, ENST00000509793.5, ENST00000652245.1 )
IFNL4 c.151-152G>A ( ENST00000606380.2 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
EGF c.-382A>G ( ENST00000265171.10, ENST00000509793.5, ENST00000652245.1 )
Associated Disease
Hepatitis C, Chronic
Source Database
DisGeNET
Description
Single nucleotide polymorphisms (SNPs) in the epidermal growth factor (EGF, rs4444903), patatin-like phospholipase domain-containing protein 3 (PNPLA3, rs738409) genes, and near the interleukin-28B (IL28B, rs12979860) gene are linked to treatment response, fibrosis, and hepatocellular carcinoma (HCC) in chronic hepatitis C. Whether these SNPs independently or in combination predict clinical deterioration in hepatitis C virus (HCV)-related cirrhosis is unknown.
Pubmed
25504078
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0948429671860937
Year of publication
2014
Drugs