| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0027651 | Neoplasms | group | Neoplasms | Neoplastic Process | disease of cellular proliferation | Neoplasm | 10153 | 1571 |
| C1333990 | Hereditary Nonpolyposis Colorectal Cancer | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases | Neoplastic Process | genetic disease | 161 | 91 | |
| C4552100 | Lynch Syndrome | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease | 102 | 65 |