Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease BEFREE Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). 22960500 2012
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease UNIPROT IVA is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of isovaleryl-CoA and its metabolites. 22350545 2012
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 CausalMutation disease CLINVAR Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene. 22960500 2012
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease CLINVAR Clinical diagnosis of IVA can be confirmed on mutation analysis of the IVD gene. 22004070 2011
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 CausalMutation disease CLINVAR Clinical diagnosis of IVA can be confirmed on mutation analysis of the IVD gene. 22004070 2011
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease UNIPROT Clinical diagnosis of IVA can be confirmed on mutation analysis of the IVD gene. 22004070 2011
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 Biomarker disease BEFREE Because of its specific features and symptoms similar to human isovaleryl-CoA dehydrogenase (IVD) deficiency, also known as isovaleric acidaemia, IVD dysfunction in silkworms was predicted to be responsible for the phenotype of the sku mutant. 21040472 2010
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease 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
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease BEFREE 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
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 CausalMutation disease CLINVAR [Clinical and mutational study of a Chinese infant with isovaleric acidemia]. 19099814 2008
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease CLINVAR [Clinical and mutational study of a Chinese infant with isovaleric acidemia]. 19099814 2008
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease CLINVAR Genetic mutation profile of isovaleric acidemia patients in Taiwan. 17027310 2007
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease BEFREE Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. 17027310 2007
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 CausalMutation disease CLINVAR Genetic mutation profile of isovaleric acidemia patients in Taiwan. 17027310 2007
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease CLINVAR Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. 17576084 2007
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 CausalMutation disease CLINVAR Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. 17576084 2007
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease BEFREE These results confirm IVD mutations in Korean patients with IVA and reveal that the mutation spectrum is different from previously reported patients. 17576084 2007
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 Biomarker disease CLINGEN Molecular analysis of the IVD gene from patients with IVA has allowed characterization of different types of mutations in this gene. 16602101 2006
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 CausalMutation disease CLINVAR Molecular analysis of the IVD gene from patients with IVA has allowed characterization of different types of mutations in this gene. 16602101 2006
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease CLINVAR An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 16825284 2006
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease BEFREE Molecular analysis of the IVD gene from patients with IVA has allowed characterization of different types of mutations in this gene. 16602101 2006
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease CLINVAR Molecular analysis of the IVD gene from patients with IVA has allowed characterization of different types of mutations in this gene. 16602101 2006
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease CLINVAR A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. 15486829 2004
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 CausalMutation disease 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
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 CausalMutation disease CLINVAR A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. 15486829 2004