SLC25A3, solute carrier family 25 member 3, 5250

N. diseases: 112; N. variants: 1
Disease: Mitochondrial Phosphate Carrier Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis. 25681081 2015
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 GermlineCausalMutation disease ORPHANET Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 17273968 2007
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 GeneticVariation disease UNIPROT Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 17273968 2007
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 Biomarker disease CTD_human
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1835845
Disease: Mitochondrial Phosphate Carrier Deficiency
Mitochondrial Phosphate Carrier Deficiency 		0.700 CausalMutation disease CLINVAR