DISEASES

Disease-gene associations mined from literature

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Human genes for visual impairment and progressive phthisis bulbi

Visual impairment and progressive phthisis bulbi [DOID:0070356]

An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.

Synonyms:  visual impairment and progressive phthisis bulbi,  DOID:0070356,  visual impairment and progressive phthisis bulbis

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.