Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 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
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 GeneticVariation CLINVAR Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992 2009
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 CausalMutation CLINVAR Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992 2009
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 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
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 GeneticVariation 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
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 CausalMutation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501 2007
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 GeneticVariation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501 2007
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 CausalMutation CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518 1999
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 CausalMutation 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
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 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
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 GeneticVariation CLINVAR Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. 7769092 1995
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 CausalMutation CLINVAR Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 7479827 1995
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 GeneticVariation CLINVAR Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 7479827 1995
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 CausalMutation CLINVAR Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. 7769092 1995
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 CausalMutation CLINVAR Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. 4022672 1985
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.800 GeneticVariation CLINVAR Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. 4022672 1985
dbSNP: rs118204014
rs118204014
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT
dbSNP: rs1057520507
rs1057520507
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.700 CausalMutation CLINVAR Next generation sequencing as a follow-up test in an expanded newborn screening programme. 29111448 2018
dbSNP: rs1057520507
rs1057520507
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.700 CausalMutation CLINVAR A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency. 27029698 2016
dbSNP: rs796051917
rs796051917
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		G 0.700 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
dbSNP: rs796051917
rs796051917
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		G 0.700 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
dbSNP: rs1057520507
rs1057520507
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		T 0.700 CausalMutation CLINVAR Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation. 10431122 1999
dbSNP: rs148584617
rs148584617
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs148584617
rs148584617
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555529204
rs1555529204
Entrez Id: 37;1856;442898
Gene Symbol: ACADVL;DVL2;MIR324
ACADVL;DVL2;MIR324
CUI: C3887523
Disease:
Very long chain acyl-CoA dehydrogenase deficiency 		GC 0.700 GeneticVariation CLINVAR