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
- Motor Neuron Disease, Lower
- Source Database
- DisGeNET
- Description
- The alanine to valine mutation at codon 4 (A4V) of SOD1 causes a rapidly progressive dominant form of amyotrophic lateral sclerosis (ALS) with exclusively lower motor neuron disease and is responsible for 50% of SOD1 mutations associated with familial ALS in North America.
- Pubmed
- 19176896
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2009
Drugs