rs200620279, ACAD8

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Isobutyryl-CoA dehydrogenase deficiency
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
0.800 GeneticVariation CLINVAR Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. 17304052 2007
Isobutyryl-CoA dehydrogenase deficiency
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
0.800 GeneticVariation CLINVAR Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. 16857760 2006
Isobutyryl-CoA dehydrogenase deficiency
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
0.800 GeneticVariation UNIPROT