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
motor neuron disease
Source Database
DisGeNET
Description
We therefore studied whether motor neuron disease (MND) in mice expressing the human SOD1 mutant G93A is dependent on p53 by crossing G93A mice with p53-knockout mice.
Pubmed
11011020
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.163520083227826
Year of publication
2000
Drugs