SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Disease: Mitochondrial pathology ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.050 GeneticVariation phenotype BEFREE Presence of SOD1(G93A) in thoracic muscles causes mitochondrial pathology and impairs normal motor behavior in these flies. 27163198 2016
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.050 GeneticVariation phenotype 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
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.050 GeneticVariation phenotype 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
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.050 GeneticVariation phenotype BEFREE Our results indicate that CCS overexpression in G93A-SOD1 mice produces severe mitochondrial pathology and accelerates disease course. 17389365 2007
CUI: C3825201
Disease: Mitochondrial pathology
Mitochondrial pathology 		0.050 Biomarker phenotype BEFREE Interestingly, mitochondrial vacuolization was associated with accumulation of hSOD1 immunoreactivity, suggesting that the development of mitochondrial pathology is associated with disturbed SOD1 turnover. 11114261 2000