SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
Disease: Mitochondrial DNA Depletion Syndrome 12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		0.300 Biomarker disease CLINGEN Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy. 25732997 2015
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		0.300 Biomarker disease CLINGEN Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. 23401503 2013
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		0.300 Biomarker disease CLINGEN Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. 22187496 2012
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		0.300 Biomarker disease CLINGEN Adenine nucleotide translocase 1 deficiency results in dilated cardiomyopathy with defects in myocardial mechanics, histopathological alterations, and activation of apoptosis. 21232697 2011
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		0.300 Biomarker disease CLINGEN Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. 16155110 2005
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		0.300 Biomarker disease CLINGEN Adeno-associated virus-mediated gene transfer of the heart/muscle adenine nucleotide translocator (ANT) in mouse. 15647764 2005
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		0.300 Biomarker disease CLINGEN Expression and sequence analysis of the mouse adenine nucleotide translocase 1 and 2 genes. 10974536 2000
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		0.300 Biomarker disease CLINGEN A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. 9207786 1997
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		0.300 Biomarker disease CLINGEN Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. 8479824 1993
CUI: C4321247
Disease: Mitochondrial DNA Depletion Syndrome 12
Mitochondrial DNA Depletion Syndrome 12 		0.300 Biomarker disease CLINGEN A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed. 2547778 1989