| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0025202 | melanoma | disease | Neoplasms | Neoplastic Process | disease of cellular proliferation | Neoplasm | 3087 | 515 |
| C0020474 | Hyperlipidemia, Familial Combined | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease; disease of metabolism | Abnormality of metabolism/homeostasis | 91 | 28 |
| C0027627 | Neoplasm Metastasis | phenotype | Pathological Conditions, Signs and Symptoms; Neoplasms | Neoplastic Process | 6385 | 327 |