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: rs140853839
rs140853839
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Inherited metabolic disorders in Turkish patients with autism spectrum disorders. 26055667 2016
dbSNP: rs140853839
rs140853839
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience. 22241096 2012
dbSNP: rs140853839
rs140853839
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. 18676165 2008
dbSNP: rs140853839
rs140853839
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. 16926354 2006