Source: GENOMICS_ENGLAND

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 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

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 Biomarker GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793

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 Biomarker GENOMICS_ENGLAND Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285

1999
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 Biomarker GENOMICS_ENGLAND 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 Biomarker GENOMICS_ENGLAND

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 Biomarker GENOMICS_ENGLAND

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0270984
Disease: Metabolic myopathy
Metabolic myopathy 		0.300 Biomarker GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793

2015
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0369183
Disease: Erythrocyte Mean Corpuscular Hemoglobin Test
Erythrocyte Mean Corpuscular Hemoglobin Test 		0.300 Biomarker GENOMICS_ENGLAND Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285

1999
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.300 Biomarker GENOMICS_ENGLAND Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285

1999