DISEASES

Disease-gene associations mined from literature

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Human genes for Doyne honeycomb retinal dystrophy

Doyne honeycomb retinal dystrophy [DOID:0060745]

A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16.

Synonyms:  Doyne honeycomb retinal dystrophy,  DOID:0060745,  Doyne honeycomb retinal dystrophies,  DHRD,  Doyne honeycomb degeneration of retina ...

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.