MMUT, methylmalonyl-CoA mutase, 4594

N. diseases: 147; N. variants: 177
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency ×
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 Biomarker disease GENOMICS_ENGLAND
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 Biomarker disease CTD_human
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease CLINVAR Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. 1346616 1992
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. 1346616 1992
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 CausalMutation disease CLINVAR Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. 1346616 1992
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. 1351030 1992
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 CausalMutation disease CLINVAR Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation. 1670635 1991
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation. 1670635 1991
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 Biomarker disease CLINGEN 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 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 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 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 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 CausalMutation disease CLINVAR Tissue reaction to intraperitoneal polymer implants: species difference and effects of corticoid and doxorubicin. 2661559 1989
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
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 Biomarker disease CLINGEN Methylmalonyl CoA mutase--a radiochromatographic assay. 4654847 1972
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 diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP]. 7602808 1995
CUI: C1855114
Disease: Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency 		0.900 GeneticVariation disease UNIPROT Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria. 7909321 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 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 CausalMutation disease CLINVAR 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 CLINVAR 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 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 CausalMutation 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 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 Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. 9285782 1997