Annotation Detail
Information
- Associated Genes
- HFE
- Associated Variants
-
HFE p.His63Asp (p.H63D)
(
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.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.His63Asp (p.H63D) ( 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.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
- Hereditary hemochromatosis
- Source Database
- DisGeNET
- Description
- The recent identification of 2 mutations in the HFE gene related to hereditary haemochromatosis (Cys282Tyr and His63Asp) provided an opportunity to test whether they are associated with hepatic iron accumulation and the activity and severity of liver disease in hepatitis C virus (HCV) infection.
- Pubmed
- 10692680
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.204734063957204
- Year of publication
- 2000
Drugs