Annotation Detail
Information
- Associated Genes
- HFE
- Associated Variants
-
HFE p.Cys282Tyr (p.C282Y)
(
ENST00000357618.10,
ENST00000349999.8,
ENST00000353147.9,
ENST00000488199.5,
ENST00000397022.7,
ENST00000352392.8,
ENST00000470149.5,
ENST00000317896.11,
ENST00000309234.11,
ENST00000461397.6,
ENST00000336625.12,
ENST00000485729.2,
ENST00000714164.1,
ENST00000714170.1,
ENST00000714172.1,
ENST00000714174.1 )
HFE p.Cys282Tyr (p.C282Y) ( ENST00000309234.11, ENST00000317896.11, ENST00000336625.12, ENST00000349999.8, ENST00000352392.8, ENST00000353147.9, ENST00000357618.10, ENST00000397022.7, ENST00000461397.6, ENST00000470149.5, ENST00000485729.2, ENST00000488199.5, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 ) - Associated Disease
- Cirrhosis
- Source Database
- DisGeNET
- Description
- It is less well established that the prevalence of the HFE mutations is increased in alcoholic liver disease and in chronic viral hepatitis, but in both conditions, patients harboring one of these mutations, especially C282Y, are more likely to have advanced hepatic fibrosis or cirrhosis.
- Pubmed
- 10980924
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0144300264819743
- Year of publication
- 1999
Drugs