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
Presymptomatic treatment with acetylcholinesterase antisense oligonucleotides prolongs survival in ALS (G93A-SOD1) mice.
Pubmed
24455732
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.437872511657633
Year of publication
2013
Drugs