Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.730 Biomarker disease BEFREE 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
0.730 Biomarker disease 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
0.730 Biomarker disease 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
0.730 Biomarker disease 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
0.730 GeneticVariation disease CLINVAR Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 25689098 2015
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.730 GermlineCausalMutation disease ORPHANET 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
0.730 Biomarker disease BEFREE The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome). 25111118 2014
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.730 Biomarker disease CLINGEN Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice. 21659959 2011
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.730 GeneticVariation disease CLINVAR 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
0.730 Biomarker disease 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
0.730 GeneticVariation disease BEFREE Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening. 17924841 2007
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.730 GeneticVariation disease CLINVAR 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
0.730 GeneticVariation disease UNIPROT 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
0.730 Biomarker disease 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
0.730 Biomarker disease CLINGEN Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. 15505379 2004
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.730 GeneticVariation disease UNIPROT Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. 15505379 2004
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.730 Biomarker disease CLINGEN Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. 12359132 2003
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.730 GeneticVariation disease UNIPROT Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. 12359132 2003
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.730 CausalMutation disease CLINVAR
Entrez Id: 27034
Gene Symbol: ACAD8
ACAD8
0.730 Biomarker disease CTD_human