Annotation Detail

Information
Associated Genes
SOD2
Associated Variants
SOD2 MUTATION
SOD2 MUTATION
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
GSTP1 c.[313A>G;341=] ( ENST00000398606.10 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
The aim of the present study was to test the association between genetic polymorphisms with functional effects on redox regulation: Ala16Val of manganese superoxide dismutase (MnSOD or SOD2), polymorphic deletions of glutathione S-transferases M1 (GSTM1) and T1 (GSTT1) and Ile105Val of the GSTP1 and carotid atherosclerosis in patients with type 2 diabetes.
Pubmed
22330623
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.143474822784061
Year of publication
2012
Drugs