Source: CLINVAR

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 CausalMutation CLINVAR Next generation sequencing as a follow-up test in an expanded newborn screening programme. 29111448

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 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 CausalMutation CLINVAR Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan. 29552494

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 CausalMutation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation 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 Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation. 26927351

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 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 CausalMutation 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 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 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 CausalMutation CLINVAR A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency. 27029698

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 Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis. 25338548

2015
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 Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis. 25652019

2015
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 CausalMutation CLINVAR Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. 26385305

2015
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 Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. 25834949

2015
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 CausalMutation CLINVAR Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency. 26937394

2015
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 management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency. 25655073

2015
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 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. 26385305

2015
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 [Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency]. 26182500

2015
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 CausalMutation CLINVAR Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency. 25834949

2015
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 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
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 CausalMutation CLINVAR Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. 24503138

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 Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency. 24801231

2014