DISEASES

Disease-gene associations mined from literature

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Literature associating TMEM63C and Coffin-Siris syndrome 3

TMEM63C [ENSP00000298351]

Calcium permeable stress-gated cation channel 1; Acts as an osmosensitive calcium-permeable cation channel . Required for the functional integrity of the kidney glomerular filtration barrier (By similarity). ; Belongs to the CSC1 (TC 1.A.17) family.

Synonyms:  TMEM63C,  TMEM63Cp,  hTMEM63C,  A0A024R6B3,  G3V2V1 ...

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.