rs121908418
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
C
0.800
CausalMutation
CLINVAR
rs200620279
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
rs121908419
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
A
0.700
CausalMutation
CLINVAR
rs121908420
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
T
0.700
CausalMutation
CLINVAR
rs121908421
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
A
0.700
CausalMutation
CLINVAR
rs374317179
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
rs931572188
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Leukopenia
0.010
GeneticVariation
BEFREE
A significantly higher thiopurine-induced leukopenia risk was found for TPMT (OR 3.9, 95% [CI] 2.5-6.1) and for NUDT15 R139C (OR 6.9, 95% CI 5.2-9.1), G52A (OR 3.2, 95% CI 1.3-7.9) and 36_37ins/delGGAGTC variant carriers (OR 5.6, 95% CI 2.8-11.4).
31342537
2019
rs200620279
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
A
0.800
GeneticVariation
CLINVAR
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
17304052
2007
rs121908419
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
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
rs121908418
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
12359132
2003
rs121908422
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
12359132
2003
rs367857040
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
12359132
2003
rs367996531
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
12359132
2003
rs371449613
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
12359132
2003
rs759877257
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
12359132
2003
rs778823613
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
12359132
2003
rs121908418
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
15505379
2004
rs121908422
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
15505379
2004
rs367857040
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
15505379
2004
rs367996531
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
15505379
2004
rs371449613
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
15505379
2004
rs759877257
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
15505379
2004
rs778823613
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
15505379
2004
rs121908419
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
A
0.700
GeneticVariation
CLINVAR
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
25689098
2015
rs121908418
×
Entrez Id:
27034
Gene Symbol:
ACAD8
ACAD8
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