DISEASES

Disease-gene associations mined from literature

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Literature associating USH1G and Usher syndrome type 1H

USH1G [ENSP00000480279]

Scaffold protein containing ankyrin repeats and SAM domain; Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing; Ankyrin repeat domain containing

Synonyms:  USH1G,  USH1Gp,  hUSH1G,  J3KSN5,  Q495M9 ...

Linkouts:  STRING  Pharos  UniProt

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.