Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.800 | GeneticVariation | UNIPROT | Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. | 28101778 | 2017 |
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0.800 | GeneticVariation | UNIPROT | Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. | 27167370 | 2016 |
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0.800 | GeneticVariation | UNIPROT | Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. | 26615597 | 2016 |
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A | 0.800 | CausalMutation | CLINVAR | Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. | 27167370 | 2016 |
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0.800 | GeneticVariation | UNIPROT | Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. | 25125334 | 2014 |
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0.800 | GeneticVariation | UNIPROT | Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. | 22727635 | 2012 |
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0.800 | GeneticVariation | UNIPROT | Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias. | 19588269 | 2009 |
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0.800 | GeneticVariation | UNIPROT | Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. | 17957493 | 2008 |
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0.800 | GeneticVariation | UNIPROT | Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. | 17113806 | 2007 |
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0.800 | GeneticVariation | UNIPROT | Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. | 16281286 | 2006 |
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0.800 | GeneticVariation | UNIPROT | Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. | 15781192 | 2005 |
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0.800 | GeneticVariation | 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 |
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0.800 | GeneticVariation | UNIPROT | Mutation analysis of the MCM gene in Israeli patients with mut(0) disease. | 11350191 | 2001 |
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0.800 | GeneticVariation | UNIPROT | mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. | 10923046 | 2000 |
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0.800 | GeneticVariation | UNIPROT | A common mutation among blacks with mut- methylmalonic aciduria. | 9452100 | 1998 |
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0.800 | GeneticVariation | UNIPROT | Seven novel mutations in mut methylmalonic aciduria. | 9554742 | 1998 |
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0.800 | GeneticVariation | UNIPROT | Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. | 9285782 | 1997 |
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0.800 | GeneticVariation | UNIPROT | Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia. | 7912889 | 1994 |
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0.800 | GeneticVariation | UNIPROT | Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. | 1351030 | 1992 |
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0.800 | GeneticVariation | UNIPROT | Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation. | 1670635 | 1991 |
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0.800 | GeneticVariation | UNIPROT | Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. | 1977311 | 1990 |