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 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: 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
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 AlteredExpression group BEFREE MPC1 mRNA levels were decreased in each cancer sample, while a mixture of increased and decreased MPC2 mRNA levels observed in the HCC samples. 29805642 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 AlteredExpression group BEFREE MPC1 mRNA levels were decreased in each cancer sample, while a mixture of increased and decreased MPC2 mRNA levels observed in the HCC samples. 29805642 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE MPC1 may therefore serve as an attractive biomarker for the identification of patients with HCC at a high risk of recurrence following curative resection. 29805642 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE Mitochondrial pyruvate carrier 1 functions as a tumor suppressor and predicts the prognosis of human renal cell carcinoma. 30291323 2019
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		0.010 Biomarker phenotype BEFREE Mitochondrial pyruvate carrier 1 (MPC1), a key factor that controls pyruvate transportation in the mitochondria, is known to be frequently dysregulated in tumor initiation and progression. 30770798 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.020 AlteredExpression disease BEFREE MPC-1 expression in myeloma cells is associated with the efficacy of bortezomib therapy. 31342211 2019
CUI: C0017638
Disease: Glioma
Glioma 		0.020 Biomarker disease BEFREE A clinical risk score using IDH and 1p19q status, age, KPS score, and MPC1 and MPC2 z-scores defined 4 risk categories for lower-grade glioma; this score was validated using a secondary glioma data set. 29547090 2018
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: 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: C0280474
Disease: Childhood Glioblastoma
Childhood 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: C0027651
Disease: Neoplasms
Neoplasms 		0.050 GeneticVariation group 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: 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