Annotation Detail

Information
Associated Genes
C5AR1
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
These results indicate that local complement activation and increased expression of CD88 may contribute to motor neuron death and ALS pathology in the hSOD1(G93A) mouse.
Pubmed
24067070
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0802714418720803
Year of publication
2013
Drugs