Annotation Detail

Information
Associated Genes
DIO2
Associated Variants
DIO2 p.Thr92Ala (p.T92A) ( ENST00000557010.5, ENST00000557125.1, ENST00000438257.9 )
DIO2 p.Thr92Ala (p.T92A) ( ENST00000438257.9, ENST00000557010.5, ENST00000557125.1 )
Associated Disease
Graves Disease
Source Database
DisGeNET
Description
This suggests that the Thr92Ala variant of the DIO2 gene is associated or may be in linkage disequilibrium with a functional DIO2 polymorphism which involves in the development of GD in a Russian population.
Pubmed
15542398
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00345279946692324
Year of publication
2004
Drugs