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
Functional over-load saves motor units in the SOD1-G93A transgenic mouse model of amyotrophic lateral sclerosis.
Pubmed
19879358
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.437872511657633
Year of publication
2010
Drugs