Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951

2015
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker GENOMICS_ENGLAND Peroxisomal acyl-CoA-oxidase deficiency: two new cases. 18536048

2008
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker 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
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1
CUI: C1849678
Disease: Peroxisomal ACYL-COA oxidase deficiency
Peroxisomal ACYL-COA oxidase deficiency 		0.920 Biomarker GENOMICS_ENGLAND Peroxisomal acyl CoA oxidase deficiency. 11815777

2002