MPC1, mitochondrial pyruvate carrier 1, 51660

N. diseases: 56; N. variants: 3
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
CUI: C0013146
Disease: Drug abuse
Drug abuse 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation 		0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0029231
Disease: Organic Mental Disorders, Substance-Induced
Organic Mental Disorders, Substance-Induced 		0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse 		0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0241775
Disease: Organic aciduria
Organic aciduria 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO