Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.700 | GeneticVariation | UNIPROT | Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. | 25382614 | 2015 |
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0.700 | GeneticVariation | UNIPROT | A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. | 22264772 | 2012 |
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0.700 | GeneticVariation | UNIPROT | Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. | 17968484 | 2007 |
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0.700 | GeneticVariation | UNIPROT | The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. | 11170888 | 2001 |
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0.700 | GeneticVariation | UNIPROT | The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. | 11181649 | 2001 |
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0.700 | GeneticVariation | UNIPROT | 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. | 22642865 | 2012 |
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0.700 | GeneticVariation | UNIPROT | 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. | 16010683 | 2005 |
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0.700 | GeneticVariation | UNIPROT | 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. | 27601257 | 2016 |
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0.700 | GeneticVariation | UNIPROT | Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. | 22150417 | 2012 |
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0.700 | GeneticVariation | UNIPROT | Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria. | 21071250 | 2011 |
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0.700 | GeneticVariation | UNIPROT | Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. | 11406611 | 2001 |