DISEASES

Disease-gene associations mined from literature

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Human genes for Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Riley-Ruvalcaba syndrome [DOID:0050657]

A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23.

Synonyms:  Bannayan-Riley-Ruvalcaba syndrome,  BannayanRileyRuvalcaba syndrome,  Bannayan-Riley-Ruvalcaba disease,  Bannayan-Riley-Ruvalcaba disorder,  Bannayan-Riley-Ruvalcaba syndromes ...

Linkouts:  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.