rs121908418, 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 UNIPROT 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 Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. 15505379 2004
Isobutyryl-CoA dehydrogenase deficiency
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
0.800 GeneticVariation UNIPROT Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. 12359132 2003
Isobutyryl-CoA dehydrogenase deficiency
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
0.800 CausalMutation CLINVAR