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
In this work, we aimed to investigate whether transplanted MN could prevent motor deterioration in transgenic rats expressing a mutant form of human superoxide dismutase 1 (hSOD1(G93A)) associated with inherited ALS.
Pubmed
19660174
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.437872511657633
Year of publication
2009
Drugs