ATP5F1E, ATP synthase F1 subunit epsilon, 514

N. diseases: 37; N. variants: 1
Disease: Mitochondrial Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 GeneticVariation group BEFREE This case adds to the growing literature of mitochondrial disorders caused by mitochondrial ATPase 6 mutations. 26053701 2015
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 GeneticVariation group BEFREE Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. 9221962 1997