Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Ala5Val (p.A5V)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Ala5Val (p.A5V) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- Neurodegenerative Disorders
- Source Database
- DisGeNET
- Description
- We applied this methodology to SOD1, wild-type, and Ala4Val mutant (A4V), a mutation found in amyotrophic lateral sclerosis (ALS) because decreased Zn affinity to SOD1 mutants is suggested to be involved in the pathogenesis of this neurodegenerative disease.
- Pubmed
- 22589106
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0222582335105849
- Year of publication
- 2012
Drugs