Annotation Detail
Information
- Associated Genes
- PNPLA3
- 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
- liver cirrhosis
- 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
- 0.0080673112922884
- Year of publication
- 2014
Drugs