Annotation Detail
Information
- Associated Genes
- HFE
- Associated Variants
-
TF c.1330+278G>A
(
ENST00000402696.9 )
TF c.1330+278G>A ( ENST00000402696.9 ) - Associated Disease
- Hereditary hemochromatosis
- Source Database
- DisGeNET
- Description
- Because these two outcomes were clearly associated with the biochemical and clinical expression of the disease, an indirect link between the rs3811647 polymorphism and the phenotypic presentation of HFE-HH is likely.
- Pubmed
- 25457201
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.204734063957204
- Year of publication
- 2014
Drugs