DISEASES

Disease-gene associations mined from literature

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Literature associating PHETA1 and Noonan syndrome with multiple lentigines 1

PHETA1 [ENSP00000354461]

Sesquipedalian-1; Plays a role in endocytic trafficking. Required for receptor recycling from endosomes, both to the trans-Golgi network and the plasma membrane.

Synonyms:  PHETA1,  PHETA1p,  hPHETA1,  F8VZK7,  F8W0V2 ...

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.