MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C4025706
Disease: Abnormal globus pallidus morphology
Abnormal globus pallidus morphology
0.100 Biomarker disease HPO
CUI: C0022602
Disease: Actinic keratosis
Actinic keratosis
0.010 AlteredExpression disease BEFREE To analyze MCM protein expression patterns in actinic keratosis (AK), Bowen disease (BD), and cutaneous squamous cell carcinoma (SCC), we performed immunohistochemical staining of MCM2, -5, and -7 on tissue microarray blocks from 91 AK, 50 BD, and 174 SCC samples. 27299186 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.020 AlteredExpression disease BEFREE However, MCM gene expression has not been well‑studied in lung adenocarcinoma (LUAD). 31545501 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.020 AlteredExpression disease BEFREE Our current study is to identify clinical significance of minichromosome maintenance (MCM) gene expression in Lung Adenocarcinoma (LUAD) using genome-wide RNA sequencing (RNA-seq) dataset and bioinformatics analysis tools. 31323040 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
0.010 Biomarker disease BEFREE Overexpression of minichromosome maintenance (MCM) proteins 2, 3, and 7 is associated with migration and invasion in medulloblastoma (MB). 28598542 2017
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation
0.010 Biomarker disease BEFREE Cumulative alloimmunization incidence for MUT increased from 0.12% (95% confidence interval [CI], 0.03-0.21) to 0.63% (95% CI, 0.25-1.01), while for Mur it increased from 0.04% (95% CI, 0-0.09) to 0.42% (95% CI, 0.05-0.79) when a patient was transfused 2 RBC units as compared to 12. 29441590 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE Thus, FE65 interactions with BLM and MCM proteins may contribute to the neuronal cell cycle re-entry observed in brains affected by Alzheimer's disease. 23572515 2013
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.010 AlteredExpression disease BEFREE MCM proteins are overexpressed in ATC and sustain the high proliferative capacity of ATC cells. 15899946 2005
CUI: C0002871
Disease: Anemia
Anemia
0.100 Biomarker disease HPO
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 Biomarker disease BEFREE Survival analysis was used to identify potential prognostic values of MCM genes in PDAC overall survival (OS). 30233242 2018
CUI: C0003123
Disease: Anorexia
Anorexia
0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.100 CausalMutation group CLINVAR
CUI: C4732730
Disease: Blood spots
Blood spots
0.010 Biomarker disease BEFREE DNA from the blood spots of the patient was analyzed for the MUT gene. 23729607 2013
CUI: C0006079
Disease: Bowen's Disease
Bowen's Disease
0.010 AlteredExpression disease BEFREE To analyze MCM protein expression patterns in actinic keratosis (AK), Bowen disease (BD), and cutaneous squamous cell carcinoma (SCC), we performed immunohistochemical staining of MCM2, -5, and -7 on tissue microarray blocks from 91 AK, 50 BD, and 174 SCC samples. 27299186 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 AlteredExpression phenotype BEFREE We have demonstrated that dysregulated expression of minichromosome maintenance (MCM) proteins 2-7 is characteristic of early epithelial carcinogenesis, and that these key DNA replication initiation factors can be used as diagnostic markers for cervical and genito-urinary tract cancer. 15266314 2004
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 AlteredExpression phenotype BEFREE The upregulation of MCM genes expressions in cervical carcinogenesis reaffirms MCM as a proliferative marker in DNA replication pathway, whereby proliferation of dysplastic and cancer cells become increasingly dysregulated and uncontrolled. 31653153 2019
CUI: C0262401
Disease: Carcinoma of ampulla of Vater
Carcinoma of ampulla of Vater
0.010 GeneticVariation disease BEFREE Mutations of the human MUT S homologue 6 gene in ampullary carcinoma and gastric cancer. 9808525 1998
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 Biomarker disease BEFREE Moreover, MCMs and PHGDH can be poor prognostic factors for lung cancer. 29888431 2018
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
0.010 Biomarker disease BEFREE Through data mining of a published transcriptome of UBUC (GSE31684), we identified Minichromosome Maintenance Complex Component 2 (MCM2) and MCM10 as the two most significantly upregulated genes in UC progression among the MCM gene family, the key factors for the initiation of DNA replication. 27780919 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.110 Biomarker group HPO
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.110 Biomarker group BEFREE We measured the mRNA levels, the protein levels and the number of high affinity [3H]ryanodine binding sites in the left ventricle of non-failing (n = 9) and failing human hearts [idiopathic dilated (IDCM n = 16), ischemic (ICM n = 7) or mixed (MCM n = 8) cardiomyopathies]. 9160875 1997
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.300 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Cataract, total congenital with posterior sutural opacities in Heterozygotes
0.010 Biomarker disease BEFREE This study suggests that disruption of the p53-pathway by MUT-TP53in hotspot/direct DNA contact codons is predictive of outcome in CCT-treated PCNSL patients, and concomitant MUT-TP53 and MIR34A methylation are associated with poor PFS. 27101868 2016
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 AlteredExpression disease BEFREE Currently, a consistent reduction of the MUT protein expression was obtained in the neuroblastoma cell line (SH-SY5Y) by using small-interfering RNA (siRNA) directed against an MUT transcript (MUT siRNA). 30428564 2018