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 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 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: 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 Biomarker disease GENOMICS_ENGLAND Establishment of mitochondrial pyruvate carrier 1 (MPC1) gene knockout mice with preliminary gene function analyses. 27835892 2016
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: 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: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.040 AlteredExpression disease BEFREE However, the expression status of MPC1 and MPC2 in prostate cancer (PCA) is unclear. 27852261 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.040 Biomarker disease BEFREE However, the role of MPC1 in prostate cancer and the underlying mechanism causing the down-regulation of MPC1 in tumor cells remain to be defined. 26895100 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.040 Biomarker disease BEFREE Although MPC is composed of two subunits, it has been reported that the MPC1 subunit is specifically associated with poor prognosis in several cancers, including colorectal and prostate cancer. 29286150 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.040 Biomarker disease BEFREE Here we report our results in a prostate cancer cell line in which the mitochondrial pyruvate carrier 1 (MPC1) gene was knockout. 28624784 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.040 Biomarker disease BEFREE Here we report our results in a prostate cancer cell line in which the mitochondrial pyruvate carrier 1 (MPC1) gene was knockout. 28624784 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.040 Biomarker disease BEFREE Although MPC is composed of two subunits, it has been reported that the MPC1 subunit is specifically associated with poor prognosis in several cancers, including colorectal and prostate cancer. 29286150 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.040 AlteredExpression disease BEFREE However, the expression status of MPC1 and MPC2 in prostate cancer (PCA) is unclear. 27852261 2016
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.040 Biomarker disease BEFREE However, the role of MPC1 in prostate cancer and the underlying mechanism causing the down-regulation of MPC1 in tumor cells remain to be defined. 26895100 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.030 AlteredExpression disease BEFREE Furthermore, the inhibition of COUP-TFII was able to increase MPC1 expression and inhibit the growth of glioblastoma cells <i>in vitro</i> and <i>in vivo</i>. 29928345 2018
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.030 Biomarker disease BEFREE Among the four GBM subtypes, the proneural group had the highest MPC1 copy number segments and GBM patients diagnosed with proneural subtype showed the best outcome. 31236818 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.030 Biomarker disease BEFREE Consistently, neither MPC1 nor MPC2 was predictive in a glioblastoma data set containing 5% IDH-mutant cases. 29547090 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.030 GeneticVariation disease BEFREE A total of 631 patients with glioblastoma (mean age 57.78 ± 14.36 years, 59% of males) were examined in this study, including 438 cases with MPC1 intact (MPC1 copy number segments > - 0.1, 69.4%) and 157 cases with MPC1 deletion (24.9%) tumors. 31236818 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.030 AlteredExpression disease BEFREE Furthermore, the inhibition of COUP-TFII was able to increase MPC1 expression and inhibit the growth of glioblastoma cells <i>in vitro</i> and <i>in vivo</i>. 29928345 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.030 Biomarker disease BEFREE Consistently, neither MPC1 nor MPC2 was predictive in a glioblastoma data set containing 5% IDH-mutant cases. 29547090 2018