| CUI | Disease | Type | Disease Class | Semantic type | DO Class | HPO Term | Num. genes | Num. SNPs |
|---|---|---|---|---|---|---|---|---|
| C0006142 | Malignant neoplasm of breast | disease | Neoplasms; Skin and Connective Tissue Diseases | Neoplastic Process | disease of anatomical entity; disease of cellular proliferation | 6941 | 3417 | |
| C0678222 | Breast Carcinoma | disease | Neoplasms; Skin and Connective Tissue Diseases | Neoplastic Process | disease of anatomical entity; disease of cellular proliferation | Neoplasm; Abnormality of the breast | 6776 | 2793 |
| C1611743 | Familial (FPAH) | disease | Disease or Syndrome | 1075 | 276 | |||
| C0398791 | Nijmegen Breakage Syndrome | disease | Nutritional and Metabolic Diseases | Disease or Syndrome | genetic disease | 94 | 144 |