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 1
Source Database
DisGeNET
Description
In parallel, MSCs derived from the bone marrow of a transgenic rat model of familial ALS (hSOD1(G93A)) were also characterised.
Pubmed
18539273
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.52
Year of publication
2008
Drugs