| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0268553 | Hyperlysinemias | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | Disease or Syndrome | genetic disease; disease of metabolism | Abnormality of metabolism/homeostasis | 4 | 0 |
| C2239176 | Liver carcinoma | disease | Digestive System Diseases; Neoplasms | Neoplastic Process | disease of anatomical entity; disease of cellular proliferation | Abnormality of the digestive system; Neoplasm | 5541 | 769 |
| C0027651 | Neoplasms | group | Neoplasms | Neoplastic Process | disease of cellular proliferation | Neoplasm | 10153 | 1571 |