DISEASES

Disease-gene associations mined from literature

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Human genes for optic disc anomalies with retinal and/or macular dystrophy

Optic disc anomalies with retinal and/or macular dystrophy [DOID:0080635]

A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23.

Synonyms:  optic disc anomalies with retinal and/or macular dystrophy,  DOID:0080635

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.