Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. 23480858

2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. 26453363

2016
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders. 23867825

2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014

2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 27246109

2016
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. 16488171

2006
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency. 16443431

2006
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency. 23774949

2014
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation 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