SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
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 		0.140 GeneticVariation group BEFREE ANT1 plays an important role in oxidative phosphorylation, and mutations in the ANT1 gene are responsible for mitochondrial diseases. 30311946 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.140 GeneticVariation group BEFREE The confirmation of the pathogenicity of these de novo SLC25A4 mutations highlights a third distinct clinical phenotype associated with mutation of this gene and demonstrates that early-onset mitochondrial disease can be caused by recurrent de novo mutations, which has significant implications for the application and analysis of whole-exome sequencing data in mitochondrial disease. 27693233 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.140 GeneticVariation group BEFREE The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease. 16203679 2005
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.140 Biomarker group BEFREE These results indicate that ANT has a role in mtDNA maintenance and that a mitochondrial disease can be caused by a dominant mechanism. 10926541 2000
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.140 CausalMutation group CLINVAR