Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mitochondrial pathology
CUI: C3825201
Disease: Mitochondrial pathology
0.050 GeneticVariation BEFREE Presence of SOD1(G93A) in thoracic muscles causes mitochondrial pathology and impairs normal motor behavior in these flies. 27163198 2016
Mitochondrial pathology
CUI: C3825201
Disease: Mitochondrial pathology
0.050 GeneticVariation BEFREE Our study provides a new mechanistic link for hSOD1(G93A)-mediated impairment of LE transport to autophagy-lysosomal deficits and mitochondrial pathology. 26182418 2015
Mitochondrial pathology
CUI: C3825201
Disease: Mitochondrial pathology
0.050 GeneticVariation BEFREE Transgenic mice expressing human Gly93 --> Ala (G93A) mutant SOD1 (mSOD1) develop severe MN disease, oxidative and nitrative damage, and mitochondrial pathology that appears to involve nitric oxide-mediated mechanisms. 19888600 2010
Mitochondrial pathology
CUI: C3825201
Disease: Mitochondrial pathology
0.050 GeneticVariation BEFREE G93A SOD1 transgenic mice overexpressing CCS protein develop an accelerated disease course that is associated with enhanced mitochondrial pathology and increased mitochondrial localization of mutant SOD1. 18334481 2008
Mitochondrial pathology
CUI: C3825201
Disease: Mitochondrial pathology
0.050 GeneticVariation BEFREE Our results indicate that CCS overexpression in G93A-SOD1 mice produces severe mitochondrial pathology and accelerates disease course. 17389365 2007