DISEASES

Disease-gene associations mined from literature

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Literature associating GJA8 and hereditary lymphedema IC

GJA8 [ENSP00000358238]

Gap junction alpha-8 protein; Structural component of eye lens gap junctions . Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:18006672, PubMed:19756179).

Synonyms:  GJA8,  GJA8p,  hGJA8,  P48165,  X5D7G1 ...

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.

Currently maintained by Qingyao Huang at Swiss Institute of Bioinformatics, University of Zurich. Licensed under CC BY 4.0.