| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0349639 | Juvenile Myelomonocytic Leukemia | disease | Neoplasms; Hemic and Lymphatic Diseases | Neoplastic Process | disease of anatomical entity; disease of cellular proliferation | Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues | 4 | 16 |
| C4551602 | Noonan Syndrome 1 | disease | Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | Disease or Syndrome | genetic disease; syndrome | 1 | 37 |