SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
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: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C4310676
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT 		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: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		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: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		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: C4310676
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT 		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: C4310676
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT 		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: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. 25732997 2015
CUI: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. 22187496 2012
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: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. 16155110 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
CUI: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR
CUI: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human
CUI: C4310676
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT
MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT 		0.700 GeneticVariation disease CLINVAR