Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		0.730 Biomarker CLINGEN Our results broaden the mutational spectrum of ACAD8 and improve the understanding of the clinical phenotype of IBDHD. 30253142

2018
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		0.730 Biomarker CLINGEN Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia. 28053874

2017
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		0.730 Biomarker CLINGEN A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum. 24635911

2015
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		0.730 Biomarker CLINGEN Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice. 21659959

2011
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		0.730 Biomarker CLINGEN In nine unrelated patients with isobutyryl-CoA dehydrogenase deficiency, 10 missense mutations were identified in ACAD8. 17304052

2007
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		0.730 Biomarker CLINGEN IBD deficiency was first reported in 1998 and subsequent genetic investigations identified acyl-CoA dehydrogenase (ACAD) 8, now IBD, as the gene responsible for IBD deficiency. 16857760

2006
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		0.730 Biomarker CLINGEN Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. 15505379

2004
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		0.730 Biomarker CLINGEN Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. 12359132

2003