Annotation Detail
Information
- Associated Genes
- SOD2
- Associated Variants
-
SOD2 MUTATION
SOD2 MUTATION
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 ) - Associated Disease
- diabetic retinopathy
- Source Database
- DisGeNET
- Description
- A statistically significant association of MnSOD Ala16Val polymorphism with diabetic retinopathy was found.
- Pubmed
- 19628492
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00827273981591214
- Year of publication
- 2009
Drugs