Annotation Detail
Information
- Associated Genes
- SOD2
- Associated Variants
-
SOD2 MUTATION
SOD2 MUTATION - Associated Disease
- intellectual disability
- Source Database
- DisGeNET
- Description
- The predicted mean percentages of the subjects with γ-GT elevation were about 2- to 3-fold, 3- to 4-fold and 4- to 8-fold greater in patients with the SOD2 Val/Val genotype but without any intellectual disability, those with the SOD2 Val/Ala or Ala/Ala genotype and intellectual disability and those with the SOD2 Val/Val genotype and intellectual disability, respectively, compared to those with the SOD2 Val/Ala or Ala/Ala genotype without intellectual disability.
- Pubmed
- 25372290
- Section of the abstract supporting the evidence
- METHODS AND FINDINGS
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs