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
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis.
- Pubmed
- 7951249
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 1994
Drugs