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: rs368469075
rs368469075
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014 2013
dbSNP: rs368469075
rs368469075
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: rs368469075
rs368469075
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 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: rs368469075
rs368469075
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening. 18951053 2008
dbSNP: rs368469075
rs368469075
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. 14506246 2003
dbSNP: rs368469075
rs368469075
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. 12872838 2003