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
amyotrophic lateral sclerosis
Source Database
DisGeNET
Description
In the present study, we used the superoxide dismutase 1(SODI)(G93A) transgenic mice as an in vivo model of amyotrophic lateral sclerosis (ALS) and performed immunohistochemical studies to investigate the changes of cAMP-response-element-binding protein (CREB) binding protein (CBP) in the central nervous system of transgenic mice.
Pubmed
12770687
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.437872511657633
Year of publication
2003
Drugs