SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
Disease: Mitochondrial Myopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.420 GeneticVariation group BEFREE Several heterozygous SLC25A4 mutations cause adult-onset autosomal-dominant progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions, whereas recessive SLC25A4 mutations cause childhood-onset mitochondrial myopathy and cardiomyopathy. 27693233 2016
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.420 Biomarker group GENOMICS_ENGLAND Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. 25732997 2015
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.420 GeneticVariation group BEFREE More interestingly, the aac2(A137D) allele mimicking ant1(A123D) in mitochondrial myopathy and cardiomyopathy exhibits similar dominant phenotypes. 18809618 2008
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.420 Biomarker group HPO
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.420 CausalMutation group CLINVAR