DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Literature associating CLCN7 and autosomal dominant osteopetrosis 2

CLCN7 [ENSP00000372193]

Chloride channel, voltage-sensitive 7; Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.

Synonyms:  CLCN7,  CLCN7p,  hCLCN7,  B3KXZ3,  CLCN7-001 ...

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.