Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.His44Arg (p.H44R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.His44Arg (p.H44R) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- Pro-oxidant copper-binding mode of the Apo form of ALS-linked SOD1 mutant H43R denatured at physiological temperature.
- Pubmed
- 23837654
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.437872511657633
- Year of publication
- 2013
Drugs