Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
0.110 GeneticVariation group BEFREE We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. 10775530 2000
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
0.110 Biomarker group HPO