Isobutyryl-CoA dehydrogenase deficiency
|
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 |
Isobutyryl-CoA dehydrogenase deficiency
|
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 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
Biomarker
|
disease |
CLINGEN |
Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia.
|
28053874 |
2017 |
Isobutyryl-CoA dehydrogenase deficiency
|
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 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
|
25689098 |
2015 |
Isobutyryl-CoA dehydrogenase deficiency
|
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 |
Isobutyryl-CoA dehydrogenase deficiency
|
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 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
Biomarker
|
disease |
CLINGEN |
Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice.
|
21659959 |
2011 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
In nine unrelated patients with isobutyryl-CoA dehydrogenase deficiency, 10 missense mutations were identified in ACAD8.
|
17304052 |
2007 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
Biomarker
|
disease |
CLINGEN |
In nine unrelated patients with isobutyryl-CoA dehydrogenase deficiency, 10 missense mutations were identified in ACAD8.
|
17304052 |
2007 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.
|
17924841 |
2007 |
Isobutyryl-CoA dehydrogenase deficiency
|
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 |
Isobutyryl-CoA dehydrogenase deficiency
|
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 |
Isobutyryl-CoA dehydrogenase deficiency
|
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 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
Biomarker
|
disease |
CLINGEN |
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
|
15505379 |
2004 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
|
15505379 |
2004 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
Biomarker
|
disease |
CLINGEN |
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
|
12359132 |
2003 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
|
12359132 |
2003 |
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Isobutyryl-CoA dehydrogenase deficiency
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
Malignant neoplasm of stomach
|
0.300 |
Biomarker
|
disease |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |
Stomach Neoplasms
|
0.300 |
Biomarker
|
group |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |
Disease Exacerbation
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |
Hereditary Diffuse Gastric Cancer
|
0.300 |
Biomarker
|
disease |
CTD_human |
A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients.
|
21364753 |
2011 |
Anemia
|
0.160 |
Biomarker
|
disease |
BEFREE |
Anaemia is common in patients with inflammatory bowel disease [IBD], its two main aetiologies being iron deficiency anaemia [IDA] and anaemia of chronic inflammation [ACI].
|
31665264 |
2020 |