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
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 GeneticVariation disease UNIPROT Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 28101778 2017
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia. 28811685 2017
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 GeneticVariation disease CLINVAR Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. 27591164 2017
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 GeneticVariation disease UNIPROT Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 26615597 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 Biomarker disease CLINGEN Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency. 26449400 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. 26270765 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 GeneticVariation disease CLINVAR Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. 27167370 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 26615597 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 Biomarker disease MGD Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. 27519416 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. 27233228 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. 27578510 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 Biomarker disease CLINGEN Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. 27233228 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 GeneticVariation disease UNIPROT Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. 27167370 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. 26790480 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 GeneticVariation disease CLINVAR Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. 27233228 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR [Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria]. 27751223 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 Biomarker disease CLINGEN Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. 27519416 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 GeneticVariation disease CLINVAR A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. 26270765 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. 27167370 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 GeneticVariation disease CLINVAR Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. 26790480 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. 27489777 2016
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 26454439 2015
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 CausalMutation disease CLINVAR Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). 25959030 2015
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
0.900 GeneticVariation disease CLINVAR Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). 25959030 2015