SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. 27693233 2016
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 GeneticVariation disease UNIPROT Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. 27693233 2016
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 GeneticVariation disease UNIPROT Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. 18575922 2008
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 GeneticVariation disease UNIPROT A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. 15792871 2005
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 GeneticVariation disease UNIPROT Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 12707443 2003
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 GeneticVariation disease UNIPROT A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. 12112115 2002
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 GeneticVariation disease UNIPROT A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. 11756613 2001
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 GeneticVariation disease UNIPROT Role of adenine nucleotide translocator 1 in mtDNA maintenance. 10926541 2000
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 CausalMutation disease CLINVAR
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.700 Biomarker disease CTD_human