rs121912431, SOD1

N. diseases: 11
Disease: Mitochondrial Respiratory Chain Deficiencies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mitochondrial Respiratory Chain Deficiencies
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
0.010 GeneticVariation BEFREE Together, these findings suggest that the mechanism linking mutant G37R SOD1 and ALS involves mitochondrial respiratory chain deficiency resulting in ATP loss and impairment of mitochondrial and cytosolic Ca(2+) homeostasis. 21388680 2011