DISEASES

Disease-gene associations mined from literature

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Literature associating CAPN11 and Coffin-Siris syndrome 1

CAPN11 [ENSP00000381758]

Calpain-11; Calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction; Belongs to the peptidase C2 family.

Synonyms:  CAPN11,  CAPN11p,  hCAPN11,  E9PIX3,  E9PQZ4 ...

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.