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: rs752677472
rs752677472
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. 12736383 2003
dbSNP: rs752677472
rs752677472
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. 14568186 2003