DISEASES

Disease-gene associations mined from literature

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Human genes for Usher syndrome type 2C

Usher syndrome type 2C [DOID:0110839]

An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14.

Synonyms:  Usher syndrome type 2C,  DOID:0110839,  USH2C,  Usher syndrome type IIC,  Usher syndrome type IICs

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.