IVD, isovaleryl-CoA dehydrogenase, 3712

N. diseases: 42; N. variants: 65
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 16825284 2006
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR Genetic mutation profile of isovaleric acidemia patients in Taiwan. 17027310 2007
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. 17027310 2007
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR Genetic mutation profile of isovaleric acidemia patients in Taiwan. 17027310 2007
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. 17576084 2007
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. 17576084 2007
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR [Clinical and mutational study of a Chinese infant with isovaleric acidemia]. 19099814 2008
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR [Clinical and mutational study of a Chinese infant with isovaleric acidemia]. 19099814 2008
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE The performance of Pyrosequencing compared to allele-specific, real-time PCR was then explored by a direct comparison of CE-IVD-marked versions of Pyrosequencing and TheraScreen (DxS) KRAS assays for a consecutive subset (n = 100) of the 314 clinical CRC samples. 21122130 2010
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.100 GeneticVariation phenotype GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.100 GeneticVariation phenotype GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR Clinical diagnosis of IVA can be confirmed on mutation analysis of the IVD gene. 22004070 2011
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR Clinical diagnosis of IVA can be confirmed on mutation analysis of the IVD gene. 22004070 2011
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease UNIPROT Clinical diagnosis of IVA can be confirmed on mutation analysis of the IVD gene. 22004070 2011
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR 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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR 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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation 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