Annotation Detail

Information
Associated Genes
SOD3
Associated Variants
SOD3 MUTATION
SOD3 MUTATION
Associated Disease
Myocardial Ischemia
Source Database
DisGeNET
Description
Substitution of arginine by glycine at amino acid 213 (R213G) of its HBD was first identified in patients with heart failure, followed by many studies that focused on the role of this variant (SOD3(R213G)) in ischemic heart disease and cardiovascular disease.
Pubmed
25927599
Section of the abstract supporting the evidence
AIMS
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree,LHGDN,RGD
DisGENET score for the Gene Disease association
0.0829957921145475
Drugs