DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Literature associating GJB5 and palmoplantar keratoderma and congenital alopecia 1

GJB5 [ENSP00000340811]

Gap junction beta-5 protein; One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell.

Synonyms:  GJB5,  GJB5p,  hGJB5,  O95377,  O95377p ...

Linkouts:  STRING  Pharos  UniProt  OMIM

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.