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 A new diagnostic test for VLCAD deficiency using immunohistochemistry. 15210884 2004
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR A new diagnostic test for VLCAD deficiency using immunohistochemistry. 15210884 2004
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings. 17206456 2007
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency. 27029698 2016
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency. 12213615 2002
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 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 Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. 19208414 2009
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 Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature. 27995075 2017
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 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285 1999
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285 1999
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation disease CLINVAR Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. 10738914 2000
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation 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 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 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 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 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 CausalMutation 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 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 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 CausalMutation disease CLINVAR Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. 27943070 2017
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 GeneticVariation disease CLINVAR Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992 2009