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
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8577 1441
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
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 6500 2145
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6481 2154
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6345 327
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0153690 Secondary malignant neoplasm of bone disease Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases Neoplastic Process 647 18
C2938924 Oestrogen receptor positive breast cancer disease Neoplastic Process 504 46
C0853879 Invasive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21
C4733092 estrogen receptor-negative breast cancer disease Neoplastic Process 356 40
C0346153 Breast Cancer, Familial disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 174 90
C0238033 Carcinoma of Male Breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 87 38
C0242787 Malignant neoplasm of male breast disease Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 75 43
C1096616 Contralateral breast cancer disease Neoplastic Process 24 4