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
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- The present study provides the first evidence that MnSOD immunoreactivity was increased in the central nervous system of SOD(G93A) transgenic mice, suggesting that mitochondria may play an important role in the pathogenesis and progress of ALS.
- Pubmed
- 14568347
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.437872511657633
- Year of publication
- 2003
Drugs