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: rs147442301
rs147442301
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency. 27466294 2016
dbSNP: rs147442301
rs147442301
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 CausalMutation CLINVAR [Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]. 27938594 2016
dbSNP: rs147442301
rs147442301
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 CausalMutation CLINVAR Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review. 28018444 2016
dbSNP: rs147442301
rs147442301
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 CausalMutation CLINVAR Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency. 27466294 2016
dbSNP: rs147442301
rs147442301
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review. 28018444 2016
dbSNP: rs147442301
rs147442301
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 GeneticVariation CLINVAR Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases. 26274329 2015
dbSNP: rs147442301
rs147442301
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 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: rs147442301
rs147442301
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 CausalMutation 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: rs147442301
rs147442301
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: rs147442301
rs147442301
Entrez Id: 35
Gene Symbol: ACADS
ACADS
CUI: C0342783
Disease:
Deficiency of butyryl-CoA dehydrogenase 		T 0.700 CausalMutation CLINVAR Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening. 18951053 2008