DISEASES

Disease-gene associations mined from literature

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Human genes for Leber congenital amaurosis 1

Leber congenital amaurosis 1 [DOID:0110078]

A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.

Synonyms:  Leber congenital amaurosis 1,  DOID:0110078,  amaurosis congenita of Leber I,  LCA1,  amaurosis congenita of Leber Is

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.