DISEASES

Disease-gene associations mined from literature

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Literature associating PLEK and Charcot-Marie-Tooth disease dominant intermediate B

PLEK [ENSP00000234313]

Platelet 47 kDa protein; Major protein kinase C substrate of platelets; Pleckstrin homology domain containing

Synonyms:  PLEK,  P08567,  P08567p,  hP08567,  P47 ...

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.