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: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. 25125334 2014
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. 15643616 2005
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. 25125334 2014
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia. 7912889 1994
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. 9285782 1997
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria. 25299208 2014
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
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
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. 1977311 1990
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT A common mutation among blacks with mut- methylmalonic aciduria. 9452100 1998
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria. 8880917 1996
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 17957493 2008
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
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
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. 24865477 2014
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. 1977311 1990
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Neurocognitive phenotype of isolated methylmalonic acidemia. 22614770 2012
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Structure of the human methylmalonyl-CoA mutase (MUT) locus. 1980486 1990
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). 24330302 2013
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. 17957493 2008
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. 10923046 2000
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. 15643616 2005
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. 1970180 1990
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 16435223 2005
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. 10923046 2000
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients. 23430940 2012
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import. 2881300 1987