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 Biomarker disease GENOMICS_ENGLAND Previous studies of fibroblasts from patients with isovaleric acidemia (IVA), an inherited defect in IVD, have revealed that IVD precursor protein produced by type II IVA cells is 3 kDa smaller than normal and is processed inefficiently to a mature form which is also 3 kDa smaller than normal. 1310317 1992
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE Previous studies of fibroblasts from patients with isovaleric acidemia (IVA), an inherited defect in IVD, have revealed that IVD precursor protein produced by type II IVA cells is 3 kDa smaller than normal and is processed inefficiently to a mature form which is also 3 kDa smaller than normal. 1310317 1992
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR Previous studies of fibroblasts from patients with isovaleric acidemia (IVA), an inherited defect in IVD, have revealed that IVD precursor protein produced by type II IVA cells is 3 kDa smaller than normal and is processed inefficiently to a mature form which is also 3 kDa smaller than normal. 1310317 1992
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR Previous [35S]methionine-labeling studies of fibroblasts from IVA patients have revealed at least five classes of mutations within the IVD gene. 2063866 1991
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 Biomarker disease CLINGEN Previous [35S]methionine-labeling studies of fibroblasts from IVA patients have revealed at least five classes of mutations within the IVD gene. 2063866 1991
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease UNIPROT Previous [35S]methionine-labeling studies of fibroblasts from IVA patients have revealed at least five classes of mutations within the IVD gene. 2063866 1991
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. 2318964 1990
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE Variants of isovaleryl-CoA dehydrogenase (IVDHase, EC 1.3.99.10) in 15 isovaleric acidemia fibroblast lines were analyzed using [35S]methionine labeling, immunoprecipitation with anti-rat IVDHase antiserum, and NaDodSo4/polyacrylamide gel electrophoresis. 3863140 1985
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 Biomarker disease CLINGEN Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. 6630517 1983
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. 9665741 1998
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 Biomarker disease BEFREE Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. 9665741 1998
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. 9665741 1998
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease UNIPROT Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. 9665741 1998
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. 10677295 2000
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. 10677295 2000
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE We have reported elsewhere nine point mutations in the IVD gene in fibroblasts of patients with IVA, which lead to abnormalities in IVD protein processing and activity. 10677295 2000
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 CausalMutation disease CLINVAR Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase. 10713113 2000
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease CLINVAR Mitochondrial import and processing of wild type and type III mutant isovaleryl-CoA dehydrogenase. 10713113 2000
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GeneticVariation disease BEFREE We have previously identified a nucleotide deletion in the gene for IVD in fibroblasts from a patient with isovaleric acidemia leading to a shift in reading frame and premature termination of translation. 10713113 2000
CUI: C3278509
Disease: Spinal fusion
Spinal fusion 		0.010 Biomarker disease BEFREE For spinal fusion and IVD regeneration, ex vivo manipulation of cells facilitates gene transfer, because bone and IVD tissue are too dense to be penetrated by injection of Ad or other vectors. 12389290 2002
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		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