| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1959582 | PTEN Hamartoma Tumor Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | Neoplastic Process | genetic disease; disease of anatomical entity; syndrome | 17 | 194 |