DISEASES

Disease-gene associations mined from literature

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Human genes for PTEN hamartoma tumor syndrome

PTEN hamartoma tumor syndrome [DOID:0080191]

A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene.

Synonyms:  PTEN hamartoma tumor syndrome,  DOID:0080191,  PTEN hamartoma tumor disease,  PTEN hamartoma tumor disorder,  PTEN hamartoma tumor syndromes

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.