ACOX1, acyl-CoA oxidase 1, 51

N. diseases: 95; N. variants: 12
Disease: Peroxisomal ACYL-COA oxidase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker disease BEFREE The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy). 22508517 2012
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 GermlineCausalMutation disease ORPHANET The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy). 22508517 2012
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker disease GENOMICS_ENGLAND Peroxisomal acyl-CoA-oxidase deficiency: two new cases. 18536048 2008
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 GeneticVariation disease UNIPROT These results explain why this patient with a mutation in exon 3II of the ACOX1 gene, but with normal expression of exon 3I, was indistinguishable from other patients with peroxisomal acyl-CoA oxidase deficiency with respect to his clinical presentation and the biochemical abnormalities in his fibroblasts. 17458872 2007
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker disease GENOMICS_ENGLAND These results explain why this patient with a mutation in exon 3II of the ACOX1 gene, but with normal expression of exon 3I, was indistinguishable from other patients with peroxisomal acyl-CoA oxidase deficiency with respect to his clinical presentation and the biochemical abnormalities in his fibroblasts. 17458872 2007
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 GeneticVariation disease BEFREE Enzymatic studies in these fibroblasts pointed to peroxisomal acyl-CoA oxidase deficiency and subsequent molecular analyses revealed a homozygous acceptor splice site mutation IVS3-1G>A in the ACOX1 gene (MIM *609751). 16773508 2006
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 GeneticVariation disease UNIPROT Peroxisomal acyl CoA oxidase deficiency. 11815777 2002
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker disease GENOMICS_ENGLAND Peroxisomal acyl CoA oxidase deficiency. 11815777 2002
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker disease MGD Steatohepatitis, spontaneous peroxisome proliferation and liver tumors in mice lacking peroxisomal fatty acyl-CoA oxidase. Implications for peroxisome proliferator-activated receptor alpha natural ligand metabolism. 9624157 1998
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker disease MGD Hepatocellular and hepatic peroxisomal alterations in mice with a disrupted peroxisomal fatty acyl-coenzyme A oxidase gene. 8798738 1996
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 GeneticVariation disease UNIPROT Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. 8040306 1994
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 CausalMutation disease CLINVAR
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 GeneticVariation disease CLINVAR
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker disease CTD_human