DISEASES

Disease-gene associations mined from literature

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Literature associating PKP1 and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

PKP1 [ENSP00000263946]

Band 6 protein; Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis; Armadillo repeat containing

Synonyms:  PKP1,  PKP1p,  hPKP1,  A0A024R952,  B4DRX5 ...

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.