ACADS, acyl-CoA dehydrogenase short chain, 35

N. diseases: 56; N. variants: 55
Disease: Deficiency of butyryl-CoA dehydrogenase ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906950
rs387906950
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		G 0.700 GeneticVariation CLINVAR Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency. 21325261 2011
dbSNP: rs387906950
rs387906950
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		G 0.700 GeneticVariation CLINVAR Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. 20376488 2010
dbSNP: rs387906950
rs387906950
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		G 0.700 GeneticVariation CLINVAR The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. 18523805 2008
dbSNP: rs387906950
rs387906950
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		G 0.700 CausalMutation CLINVAR