DISEASES

Disease-gene associations mined from literature

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Human genes for peroxisomal acyl-CoA oxidase deficiency

Peroxisomal acyl-CoA oxidase deficiency [DOID:0050797]

A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.

Synonyms:  peroxisomal acyl-CoA oxidase deficiency,  DOID:0050797,  peroxisomal acylCoA oxidase deficiency,  peroxisomal acyl-CoA oxidase deficiencies,  Peroxisomal acyl-coenzyme A oxidase ...

Linkouts:  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.