Gene: ACADVL ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency. 25655073 2015
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. 8845838 1996
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Muscle MRI in patients with long-chain fatty acid oxidation disorders. 24305961 2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. 26385305 2015
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518 1999
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518 1999
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. 17999356 2007
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 7479827 1995
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR [Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency]. 26182500 2015
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. 25214167 2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Next generation sequencing as a follow-up test in an expanded newborn screening programme. 29111448 2018
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. 8845838 1996
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders. 23867825 2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 7479827 1995
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice. 12893739 2003
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency. 20107901 2010
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. 23480858 2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. 23480858 2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency. 26881790 2016
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene. 24263034 2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. 26453363 2016
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening. 25456746 2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency. 11914034 2002
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. 8554073 1996
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR The seven deficient fibroblast lines were characterized by measuring acyl-coenzyme A dehydrogenation activities, overall palmitic acid oxidation, and VLCAD protein synthesis using pulse-chase, further confirming the diagnosis of VLCAD deficiency. 7769092 1995