ACOX1, acyl-CoA oxidase 1, 51

N. diseases: 95; N. variants: 12
Disease: Leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 Biomarker disease BEFREE Acyl-CoA oxidase 1 (ACOX1) deficiency is a rare and severe peroxisomal leukodystrophy associated with a very long-chain fatty acid (VLCFA) β-oxidation defect. 30312667 2019
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.110 Biomarker disease HPO