ACOX1, acyl-CoA oxidase 1, 51

N. diseases: 95; N. variants: 12
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
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 GeneticVariation disease BEFREE Further, in context of a brief obesogenic diet stress, NAFLD progression associated with Acox1 mutation resulted in significantly accelerated and exacerbated hepatocellular damage via induction of profound histological changes in hepatocytes, hepatic inflammation, and robust upregulation of gene expression associated with HCC development. 29563328 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 AlteredExpression disease BEFREE We show that SIRT5 downregulation is associated with increased succinylation and activity of ACOX1 and oxidative DNA damage response in hepatocellular carcinoma (HCC). 29491006 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 Biomarker disease BEFREE Fatty acyl-coenzyme A oxidase 1 (ACOX1) knockout (ACOX1(-/-)) mice manifest hepatic metabolic derangements that lead to the development of steatohepatitis, hepatocellular regeneration, spontaneous peroxisome proliferation, and hepatocellular carcinomas. 21801867 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 GeneticVariation disease BEFREE Phenotyping of Acox1(Lampe1) mutants revealed a progression from hepatosteatosis to steatohepatitis, and ultimately hepatocellular carcinoma. 21760938 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 Biomarker disease CTD_human Gene expression patterns in HCCs from Acox1(-/-) mice and in ciprofibrate-induced HCCs were least similar to those observed in human HCCs. 15565109 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 Biomarker disease BEFREE Gene expression patterns in HCCs from Acox1(-/-) mice and in ciprofibrate-induced HCCs were least similar to those observed in human HCCs. 15565109 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 Biomarker disease CTD_human The overall commonality of expression between AOX-/- and ciprofibrate-induced liver tumors but not with DENA-induced tumors strongly implicates the activation of PPARalpha and PPARalpha-regulated genes in liver, including those participating in lipid catabolism, as key factors in the development of HCC in AOX-/- and in ciprofibrate-treated mice. 12771043 2003
CUI: C0002152
Disease: Alloxan Diabetes
Alloxan Diabetes 		0.300 Biomarker disease CTD_human Impaired expression of NADH dehydrogenase subunit 1 and PPARgamma coactivator-1 in skeletal muscle of ZDF rats: restoration by troglitazone. 14563825 2004
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		0.300 Biomarker disease CTD_human Impaired expression of NADH dehydrogenase subunit 1 and PPARgamma coactivator-1 in skeletal muscle of ZDF rats: restoration by troglitazone. 14563825 2004