DISEASES

Disease-gene associations mined from literature

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Human genes for optic atrophy 3

Optic atrophy 3 [DOID:0111433]

An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in OPA3 on chromosome 19q13.32.

Synonyms:  optic atrophy 3,  DOID:0111433,  ADOAC,  autosomal dominant optic atrophy 3,  autosomal dominant optic atrophy and cataract ...

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.