Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Asp91Ala (p.D91A)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Asp91Ala (p.D91A) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- SOD1 and amyotrophic lateral sclerosis: mutations and oligomerization.
- Pubmed
- 18301754
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 2008
Drugs