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
- We assessed iron intake, mutations in the HFE gene that are associated with hereditary hemochromatosis (i.e., H63D and C282Y), and plasma biochemical measures of total body iron, including transferrin saturation and the ratio of the concentrations of transferrin receptors to ferritin.
- Pubmed
- 15956653
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.204734063957204
- Year of publication
- 2005
Drugs