| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants. | 28535199 | 2017 |
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|
G | 0.800 | GeneticVariation | CLINVAR | Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia. | 26018748 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. | 23587913 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical variability of isovaleric acidemia in a genetically homogeneous population. | 22350545 | 2012 |
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|
G | 0.800 | GeneticVariation | CLINVAR | Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. | 22004070 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. | 22004070 | 2011 |
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|
G | 0.800 | GeneticVariation | CLINVAR | A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia. | 20519759 | 2010 |
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|
G | 0.800 | GeneticVariation | CLINVAR | Genetic mutation profile of isovaleric acidemia patients in Taiwan. | 17027310 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. | 9665741 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. | 2063866 | 1991 |
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|
G | 0.800 | CausalMutation | CLINVAR |