Annotation Detail

Information
Associated Genes
SOD2
Associated Variants
SOD2 MUTATION
SOD2 MUTATION
Associated Disease
Down syndrome
Source Database
DisGeNET
Description
Using cultured fibroblasts with trisomy 21 (T21F), this study aimed to ascertain whether an imbalance exists in activities, mRNA, and protein expression of the antioxidant enzymes SOD1, SOD2, glutathione-peroxidase, and catalase during the cell replication process in vitro.
Pubmed
25852816
Section of the abstract supporting the evidence
ALL_TEXT_2/3
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Drugs