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
- hypothyroidism
- Source Database
- DisGeNET
- Description
- A polymorphism (Thr92Ala) in the gene encoding the deiodinase 2 (D2) enzyme that converts thyroxine to triiodothyronine in the brain was later identified in about 16% of hypothyroid persons.
- Pubmed
- 22548953
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00345279946692324
- Year of publication
- 2012
Drugs