Annotation Detail
Information
- Associated Genes
- HFE
- Associated Variants
-
HFE p.Ser65Cys (p.S65C)
(
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 )
HFE p.Ser65Cys (p.S65C) ( 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
- hemochromatosis
- Source Database
- DisGeNET
- Description
- The HFE S65C mutation may lead to mild to moderate hepatic iron overload but neither clinically manifest haemochromatosis nor iron associated extensive liver fibrosis was encountered in any of the patients carrying this mutation.
- Pubmed
- 12377814
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2002
Drugs