rs773560012, IVD

N. diseases: 1
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
0.800 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
0.800 GeneticVariation CLINVAR Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia. 26018748 2015
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.800 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
0.800 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
0.800 GeneticVariation CLINVAR Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia. 22004070 2011
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.800 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
0.800 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
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.800 GeneticVariation CLINVAR Genetic mutation profile of isovaleric acidemia patients in Taiwan. 17027310 2007
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.800 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
0.800 GeneticVariation UNIPROT Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. 2063866 1991
Isovaleryl-CoA dehydrogenase deficiency
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
0.800 CausalMutation CLINVAR