DISEASES

Disease-gene associations mined from literature

SearchDownloadsAbout

Literature associating AQP4 and megalencephalic leukoencephalopathy with subcortical cysts

AQP4 [ENSP00000372654]

Mercurial-insensitive water channel; Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system; Belongs to the MIP/aquaporin (TC 1.A.8) family.

Synonyms:  AQP4,  AQP4p,  hAQP4,  B4DHF5,  F1DSG4 ...

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.