Annotation Detail

Information
Associated Genes
TARDBP
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
Mislocalization of TDP-43 in the G93A mutant SOD1 transgenic mouse model of ALS.
Pubmed
19379791
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.379801509465824
Year of publication
2009
Drugs