Annotation Detail

Information
Associated Genes
SOD1
Associated Variants
SOD1 p.Asp91Ala (p.D91A) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Asp91Ala (p.D91A) ( ENST00000270142.11, ENST00000389995.4 )
Associated Disease
motor neuron disease
Source Database
DisGeNET
Description
Motor neuron disease in mice expressing the wild type-like D90A mutant superoxide dismutase-1.
Pubmed
17146286
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.163520083227826
Year of publication
2006
Drugs