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: C0017638
Disease: Glioma
Glioma
0.010 Biomarker disease BEFREE Taken together, these data demonstrate that suppression of CCND1 by miR-519d-3p might be a therapeutic target for glioma.<b>Abbreviations</b> miR-519d-3p: microRNA-519d-3p; CCND1: Cyclin D1; ATCC: American Type Culture Collection; MTT: 3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyltetrazolium bromide; PI: propidium iodide; WT: wild type; MUT: mutant type; SD: standard deviation. 31661371 2020
Methylmalonyl-Coenzyme A mutase deficiency
0.010 Biomarker disease BEFREE Isolated methylmalonic aciduria (MMAuria) is primarily caused by deficiency of methylmalonyl-CoA mutase (MMUT or MUT). 31770620 2020
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE In conclusion, our results demonstrated that inhibition of miR-145-5p might be a neuroprotective target for diabetes mellitus-related DR. <b>Abbreviations:</b> DR: diabetic retinopathy; RGCs: retinal ganglion cells; miR-145-5p: microRNA-145-5p; TNF-α: tumor necrosis factor-α; IL-6: interleukin-6; FGF: fibroblast growth factor; ATCC: American Type Culture Collection; WT: wild type; MUT: mutant type. 31272285 2019
CUI: C0012546
Disease: Diphtheria
Diphtheria
0.010 GeneticVariation disease BEFREE DTaP5-HB-IPV-Hib is a fully liquid, hexavalent vaccine containing a 5-antigen pertussis component, approved since 2016 in Europe [Vaxelis; DTaP5-HB-IPV-Hib vaccine: Diphtheria, tetanus, pertussis (5 acellular components: pertussis toxoid [PT], filamentous haemagglutinin [FHA], pertactin (PRN), and fimbriae Types 2 and 3 [FIM]), hepatitis B (recombinant DNA: rDNA), poliomyelitis (inactivated) and Haemophilus influenzae type b conjugate vaccine (adsorbed); MCM Vaccine B.V., The Netherlands] for primary and booster vaccination in infants and toddlers against diphtheria, tetanus, pertussis, hepatitis B, poliomyelitis and invasive diseases caused by Haemophilus influenzae type b. 30882742 2019
CUI: C0021400
Disease: Influenza
Influenza
0.010 GeneticVariation disease BEFREE DTaP5-HB-IPV-Hib is a fully liquid, hexavalent vaccine containing a 5-antigen pertussis component, approved since 2016 in Europe [Vaxelis; DTaP5-HB-IPV-Hib vaccine: Diphtheria, tetanus, pertussis (5 acellular components: pertussis toxoid [PT], filamentous haemagglutinin [FHA], pertactin (PRN), and fimbriae Types 2 and 3 [FIM]), hepatitis B (recombinant DNA: rDNA), poliomyelitis (inactivated) and Haemophilus influenzae type b conjugate vaccine (adsorbed); MCM Vaccine B.V., The Netherlands] for primary and booster vaccination in infants and toddlers against diphtheria, tetanus, pertussis, hepatitis B, poliomyelitis and invasive diseases caused by Haemophilus influenzae type b. 30882742 2019
CUI: C0032371
Disease: Poliomyelitis
Poliomyelitis
0.010 GeneticVariation disease BEFREE DTaP5-HB-IPV-Hib is a fully liquid, hexavalent vaccine containing a 5-antigen pertussis component, approved since 2016 in Europe [Vaxelis; DTaP5-HB-IPV-Hib vaccine: Diphtheria, tetanus, pertussis (5 acellular components: pertussis toxoid [PT], filamentous haemagglutinin [FHA], pertactin (PRN), and fimbriae Types 2 and 3 [FIM]), hepatitis B (recombinant DNA: rDNA), poliomyelitis (inactivated) and Haemophilus influenzae type b conjugate vaccine (adsorbed); MCM Vaccine B.V., The Netherlands] for primary and booster vaccination in infants and toddlers against diphtheria, tetanus, pertussis, hepatitis B, poliomyelitis and invasive diseases caused by Haemophilus influenzae type b. 30882742 2019
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 Biomarker phenotype BEFREE Our findings revealed that MCM3 promoted radioresistance through activating NF-κB pathway, strengthening the role of MCM subunits in the tumor progression and providing a new target for HCC therapy. 31208444 2019
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia
0.010 Biomarker disease BEFREE Deficiency of propionyl-CoA carboxylase causes propionic acidemia and deficiencies of methylmalonyl-CoA mutase or its cofactor adenosylcobalamin cause methylmalonic acidemia. 31451751 2019
CUI: C0280324
Disease: Laryngeal Squamous Cell Carcinoma
Laryngeal Squamous Cell Carcinoma
0.010 AlteredExpression disease BEFREE Minichromosome maintenance (MCM) protein 4 overexpression is a potential prognostic marker for laryngeal squamous cell carcinoma. 29135113 2019
Secondary malignant neoplasm of liver
0.010 GeneticVariation disease BEFREE Patients with resected CRLM treated at MSKCC with and without adjuvant HAI who had available KRAS status (wild-type, WT; mutated, MUT) were reviewed from a prospectively maintained institutional database. 30817353 2019
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions
0.010 Biomarker disease BEFREE The second is a deterministic multi-compartment model (MuSe-MCM) that considers numerous genotypes of the population and where mutations are treated as a transfer of biomass between neighboring genotypes (i.e., a diffusion of characteristics in trait space). 30796940 2019
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: C0007867
Disease: Cervix Diseases
Cervix Diseases
0.010 Biomarker group BEFREE Risk stratification of cervical disease using detection of human papillomavirus (HPV) E4 protein and cellular MCM protein in clinical liquid based cytology samples. 30218891 2018
CUI: C0009946
Disease: Conversion disorder
Conversion disorder
0.010 Biomarker group BEFREE The H6P2W18O62/MCM-41-SUP was first synthesized using supercritical impregnation as highly efficient catalyst during glycerol conversion reaction. 29442915 2018
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: C0027819
Disease: Neuroblastoma
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
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.010 Biomarker disease BEFREE We report three patients with isolated MUT related MMA who presented with severe refractory pancytopenia during acute illness. 29330964 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 Biomarker disease BEFREE Moreover, MCMs and PHGDH can be poor prognostic factors for lung cancer. 29888431 2018
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
0.010 Biomarker disease BEFREE The diffuse distribution and 50% cut-off value of positive cells revealed statistically significant associations of all MCM proteins with SCC thicker than 6 mm. 27299186 2018
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: 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
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: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 Biomarker disease BEFREE Moreover, MCMs and PHGDH can be poor prognostic factors for lung cancer. 29888431 2018
Perianal Squamous Intraepithelial Neoplasia
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: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
0.010 Biomarker disease BEFREE The aim of the current study was to investigate the potential prognostic value of minichromosome maintenance (MCM) genes in patients with early-stage pancreatic ductal adenocarcinoma (PDAC) after pancreaticoduodenectomy by using the RNA-sequencing dataset from The Cancer Genome Atlas (TCGA). 30233242 2018