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
Neurodegenerative Disorders
Source Database
DisGeNET
Description
We used SOD1(G93A) mice as a model, which exhibit the motor neuron-specific neurodegenerative disease, amyotrophic lateral sclerosis.
Pubmed
23470532
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0222582335105849
Year of publication
2013
Drugs