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 GeneticVariation CLINVAR MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. 21814341

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 Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. 11590124

2001
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 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
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 Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. 16464760

2005
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 CausalMutation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation CLINVAR Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. 19208414

2009
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 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
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
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 Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992

2009
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 GeneticVariation CLINVAR Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl. 11158518

2001
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 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation 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
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 A new diagnostic test for VLCAD deficiency using immunohistochemistry. 15210884

2004
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 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 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 CausalMutation 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
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		1.000 GeneticVariation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612

2014