Annotation Detail
Information
- Associated Genes
- HAMP
- Associated Variants
-
HAMP p.Gly71Asp (p.G71D)
(
ENST00000222304.5,
ENST00000598398.5 )
HAMP p.Gly71Asp (p.G71D) ( ENST00000222304.5, ENST00000598398.5 ) - Associated Disease
- HEMOCHROMATOSIS, TYPE 2B
- Source Database
- DisGeNET
- Description
- HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.
- Pubmed
- 14670915
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2004
Drugs