Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.His47Arg (p.H47R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.His47Arg (p.H47R) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- motor neuron disease
- Source Database
- DisGeNET
- Description
- We found that peroxidized Cys111 of H46R SOD1 plays a role in promoting formation of high molecular weight insoluble SOD1 species that is correlated with the progression of the motor neuron disease phenotype.
- Pubmed
- 25762155
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.163520083227826
- Year of publication
- 2015
Drugs