Annotation Detail
Information
- Associated Genes
- TFR2
- Associated Variants
-
TFR2 p.Tyr250Ter (p.Y250*)
(
ENST00000223051.8,
ENST00000431692.5,
ENST00000462107.1 )
TFR2 p.Tyr250Ter (p.Y250*) ( ENST00000223051.8, ENST00000431692.5, ENST00000462107.1 ) - Associated Disease
- Iron Overload
- Source Database
- DisGeNET
- Description
- The pathogenetic role of TFR2 in hemochromatosis has been recently further demonstrated through the targeted expression of the Y250X human mutation in mice, which develop sings of iron overload identical to the human disease.
- Pubmed
- 12547237
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.018511586084843
- Year of publication
- 2002
Drugs