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 POLG2 on chromosome 17q23.3.

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

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.