DISEASES

Disease-gene associations mined from literature

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Literature associating GJB2 and cystic fibrosis

GJB2 [ENSP00000372295]

Gap junction protein, beta 2, 26kDa; 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; Deafness associated genes

Synonyms:  GJB2,  GJB2p,  hGJB2,  H9U1J4,  P29033 ...

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.