MPC1, mitochondrial pyruvate carrier 1, 51660

N. diseases: 56; N. variants: 3
Disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553607
Disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND Establishment of mitochondrial pyruvate carrier 1 (MPC1) gene knockout mice with preliminary gene function analyses. 27835892 2016
CUI: C3553607
Disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		0.700 GermlineCausalMutation disease ORPHANET A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. 22628558 2012
CUI: C3553607
Disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		0.700 GeneticVariation disease UNIPROT A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. 22628558 2012
CUI: C3553607
Disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		0.700 CausalMutation disease CLINVAR
CUI: C3553607
Disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		0.700 GeneticVariation disease CLINVAR
CUI: C3553607
Disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		0.700 Biomarker disease CTD_human