Annotation Detail

Information
Associated Genes
SOD1
Associated Variants
SOD1 p.Gly86Arg (p.G86R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly86Arg (p.G86R) ( ENST00000270142.11, ENST00000389995.4 )
Associated Disease
amyotrophic lateral sclerosis
Source Database
DisGeNET
Description
Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice.
Pubmed
20962037
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.437872511657633
Year of publication
2011
Drugs