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
Excitability properties of mouse motor axons in the mutant SOD1(G93A) model of amyotrophic lateral sclerosis.
Pubmed
20095022
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.437872511657633
Year of publication
2010
Drugs