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
- Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload.
- Pubmed
- 15020277
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.018511586084843
- Year of publication
- 2004
Drugs