Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. 25125334 2014
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		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
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. 25125334 2014
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria. 25299208 2014
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		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
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		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
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria. 8880917 1996
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		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
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia. 23479330 2013
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. 20549364 2010
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		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
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. 24865477 2014
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass. 24464670 2014
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia]. 23045948 2012
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 26615597 2016
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia. 7912889 1994
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Neurocognitive phenotype of isolated methylmalonic acidemia. 22614770 2012
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. 12402345 2002
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		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
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl. 17445044 2007
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). 24330302 2013
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. 22695176 2012
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 CausalMutation disease CLINVAR Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. 16281286 2006
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia. 1970180 1990
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		0.900 GeneticVariation disease CLINVAR Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency. 16435223 2005