×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
Biomarker
disease
BEFREE
Isovaleric acidemia (IVA ) is an inborn error of metabolism caused by deficiency of isovaleryl-CoA dehydrogenase .
31707166
2020
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
BEFREE
This biochemical phenotype resembles isovaleric acidemia and is caused by an exonic splice mutation in Ivd leading to partial skipping of exon 10 and IVD protein deficiency.
30709776
2019
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
Biomarker
disease
CLINGEN
Mild inborn errors of metabolism in commonly used inbred mouse strains.
30709776
2019
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
Biomarker
disease
CLINGEN
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
27904153
2017
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
CLINVAR
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
27904153
2017
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
CausalMutation
disease
CLINVAR
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
27904153
2017
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
UNIPROT
Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.
28535199
2017
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
CLINVAR
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
27629047
2016
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
CausalMutation
disease
CLINVAR
Angelman syndrome and isovaleric acidemia: What is the link?
26937393
2015
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
BEFREE
In this study, we searched for IVD mutations in five Japanese patients with IVA (neonatal type, two patients; chronic intermittent type, two patients; and mild biochemical type, one patient).
26018748
2015
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
CLINVAR
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
26018748
2015
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
CausalMutation
disease
CLINVAR
Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.
24637313
2014
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
CLINVAR
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.
24516753
2014
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
Biomarker
disease
GENOMICS_ENGLAND
An atlas of genetic influences on human blood metabolites.
24816252
2014
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
CLINVAR
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
25220015
2014
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
CLINVAR
Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.
24637313
2014
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
Biomarker
disease
CLINGEN
Chronic intermittent form of isovaleric aciduria in a 2-year-old boy.
24019846
2013
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
BEFREE
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia .
23063737
2013
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
CausalMutation
disease
CLINVAR
Isovaleric acidemia (IVA ) is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD ).
23587913
2013
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
Biomarker
disease
BEFREE
Isovaleric acidemia (IVA ) is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD ).
23587913
2013
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
GeneticVariation
disease
UNIPROT
Isovaleric acidemia (IVA ) is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD ).
23587913
2013
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
0.800
Biomarker
disease
GENOMICS_ENGLAND
Chronic intermittent form of isovaleric aciduria in a 2-year-old boy.
24019846
2013
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
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
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
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
×
Entrez Id:
3712
Gene Symbol:
IVD
IVD
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