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 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 GeneticVariation disease CLINVAR The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. 26453363 2016
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 Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. 12122118 2002
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 VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 27246109 2016
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 GeneticVariation disease CLINVAR Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches. 20060901 2010
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. 16488171 2006
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 Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency. 16443431 2006
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase. 18227065 2008
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation 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 GeneticVariation 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 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 GeneticVariation disease CLINVAR Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. 28755359 2018
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. 20480395 2010
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. 27209629 2016
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts. 21378393 2011
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 GeneticVariation disease CLINVAR Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan. 18670371 2008
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Relationship between structure and substrate-chain-length specificity of mitochondrial very-long-chain acyl-coenzyme A dehydrogenase. 9839948 1998
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation 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