Disease: Isobutyryl-CoA dehydrogenase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908419
rs121908419
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease:
Isobutyryl-CoA dehydrogenase deficiency 		A 0.700 GeneticVariation CLINVAR Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 25689098 2015
dbSNP: rs121908419
rs121908419
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease:
Isobutyryl-CoA dehydrogenase deficiency 		A 0.700 GeneticVariation CLINVAR Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. 17304052 2007
dbSNP: rs121908419
rs121908419
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease:
Isobutyryl-CoA dehydrogenase deficiency 		A 0.700 CausalMutation CLINVAR