DISEASES

Disease-gene associations mined from literature

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Human genes for snowflake vitreoretinal degeneration

Snowflake vitreoretinal degeneration [DOID:0111570]

An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1.

Synonyms:  snowflake vitreoretinal degeneration,  DOID:0111570,  snowflake vitreoretinal degenerations,  SVD,  vitreoretinal degeneration, snowflake type ...

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.