DISEASES

Disease-gene associations mined from literature

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Human genes for autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 [DOID:0111525]

A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3.

Synonyms:  autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4,  DOID:0111525,  PEOA4,  autosomal dominant progressive external ophthalmoplegia 4

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.