DISEASES

Disease-gene associations mined from literature

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Literature associating CLCN5 and megalencephalic leukoencephalopathy with subcortical cysts

CLCN5 [ENSP00000365256]

Chloride channel, voltage-sensitive 5; Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function; Belongs to the chloride channel (TC 2.A.49) family. ClC-5/CLCN5 subfamily.

Synonyms:  CLCN5,  CLCN5p,  hCLCN5,  P51795,  V9GYG7 ...

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.