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 Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis. 25242572 2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis. 25242572 2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
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 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 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 GeneticVariation disease CLINVAR Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency. 23774949 2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency. 24801231 2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts. 24898617 2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Muscle MRI in patients with long-chain fatty acid oxidation disorders. 24305961 2014
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 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 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 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 Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014 2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations. 23418865 2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014 2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay. 22841441 2012
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening. 22847164 2012
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. 21932095 2012
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. 21932095 2012
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening. 22847164 2012
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defect. 23430950 2012
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. 21814341 2011