| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C1168401 | Squamous cell carcinoma of the head and neck | disease | Neoplasms | Neoplastic Process | disease of cellular proliferation | 1543 | 348 | |
| C0027672 | Neoplastic Syndromes, Hereditary | group | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | Neoplastic Process | 88 | 6387 | ||
| C0085390 | Li-Fraumeni Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease | 76 | 206 | |
| C1835398 | LI-FRAUMENI SYNDROME 1 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | Disease or Syndrome | 1 | 39 |