rs121434285, IVD

N. diseases: 2
Disease: Isovaleryl-CoA dehydrogenase deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.700 GeneticVariation UNIPROT Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants. 28535199 2017
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.700 GeneticVariation UNIPROT Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant. 23587913 2013
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.700 GeneticVariation UNIPROT Clinical variability of isovaleric acidemia in a genetically homogeneous population. 22350545 2012
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.700 GeneticVariation UNIPROT Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. 22004070 2011
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.700 GeneticVariation UNIPROT Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. 9665741 1998
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.700 GeneticVariation UNIPROT Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. 2063866 1991