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
- Degenerative polyarthritis
- Source Database
- DisGeNET
- Description
- The allelic imbalance of the DIO2 mRNA transcript, with the OA risk allele 'C' of rs225014 more abundant than the wild-type 'T' allele in heterozygote carriers provides a possible mechanism by which genetic variation at DIO2 confers OA risk.
- Pubmed
- 22492780
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00908706543215305
- Year of publication
- 2012
Drugs