Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Gly94Ala (p.G94A)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- Kearns-Sayre syndrome
- Source Database
- DisGeNET
- Description
- Collectively, these results establish that CCS/G93A SOD1 mice manifest an isolated complex IV deficiency which may underlie a substantial part of mutant SOD1-induced mitochondrial cytopathy.
- Pubmed
- 18334481
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2008
Drugs