| 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 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. | 27904153 | 2017 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Angelman syndrome and isovaleric acidemia: What is the link? | 26937393 | 2015 |
|||
|
0.800 | GeneticVariation | UNIPROT | Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. | 23587913 | 2013 |
||||
|
0.800 | GeneticVariation | UNIPROT | Clinical variability of isovaleric acidemia in a genetically homogeneous population. | 22350545 | 2012 |
||||
|
0.800 | GeneticVariation | UNIPROT | Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. | 22004070 | 2011 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability. | 15337167 | 2004 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. | 15486829 | 2004 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. | 9665741 | 1998 |
|||
|
0.800 | GeneticVariation | UNIPROT | Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. | 9665741 | 1998 |
||||
|
0.800 | GeneticVariation | UNIPROT | Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. | 2063866 | 1991 |