DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Human genes for Usher syndrome type 1D

Usher syndrome type 1D [DOID:0110831]

An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22.

Synonyms:  Usher syndrome type 1D,  DOID:0110831,  USH1D,  Usher syndrome type ID,  Usher syndrome type IDs

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.