|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS. (Orphanet Rare Disease Ontology, Orphanet_306498)|
|Downloads & Tools|
1 genes associated with the PTEN hamartoma tumor syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|PTEN||phosphatase and tensin homolog|