Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
0.410 Biomarker group GENOMICS_ENGLAND Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. 29327420 2018
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
0.410 Biomarker group GENOMICS_ENGLAND Our data support a potentially causal link between SLC25A42 mutation and mitochondrial myopathy in humans. 26541337 2016
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
0.410 GeneticVariation group BEFREE Our data support a potentially causal link between SLC25A42 mutation and mitochondrial myopathy in humans. 26541337 2016
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
0.410 GeneticVariation group CLINVAR