Annotation Detail
Information
- Associated Genes
- HFE
- Associated Variants
-
HAMP p.Gly71Asp (p.G71D)
(
ENST00000222304.5,
ENST00000598398.5 )
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 )
HAMP p.Gly71Asp (p.G71D) ( ENST00000222304.5, ENST00000598398.5 )
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 ) - Associated Disease
- Iron Overload
- Source Database
- DisGeNET
- Description
- Thus, The HAMP-G71D and HFE-H63D variants are not uncommon among the Egyptian SCD patients; neither of them alone was found to be a major determinant of iron overload in the studied patients.
- Pubmed
- 25117103
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.169906848788565
- Year of publication
- 2015
Drugs