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 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 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 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 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 MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. 14517516 2003
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 MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. 14517516 2003
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 Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. 16464760 2005
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL 		1.000 CausalMutation 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 CausalMutation disease CLINVAR Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. 16950999 2006
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 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 CausalMutation 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 CausalMutation 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 GeneticVariation disease CLINVAR Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties. 17514507 2007
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 GeneticVariation disease CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501 2007
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 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501 2007
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 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 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 Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992 2009