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
- Central neuroblastoma
- Source Database
- DisGeNET
- Description
- Impairment of nuclear factor-kappaB activation increased glutamate excitotoxicity in a motoneuron-neuroblastoma hybrid cell line expressing mutant (G93A) Cu/Zn-superoxide dismutase.
- Pubmed
- 20623531
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00732893054616819
- Year of publication
- 2010
Drugs