Annotation Detail
Information
- Associated Genes
- HLA-DRB4
- 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
- Hereditary hemochromatosis
- Source Database
- DisGeNET
- Description
- It has been postulated that the HFE C282Y mutation (linked to human leukocyte antigen [HLA]-A3-B7 haplotype) is not only responsible for hereditary hemochromatosis; HLA class I alleles would also contribute to the disease pathogenesis.
- Pubmed
- 15740492
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2005
Drugs