Source: BEFREE

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
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355
C3539878 Triple Negative Breast Neoplasms disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1673 96
C4722518 Triple-Negative Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96
C0476089 Endometrial Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1555 233
C0007103 Malignant neoplasm of endometrium disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1231 197
C0020473 Hyperlipidemia disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 424 83
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
C2986665 Early-Stage Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 142 7
C0016034 Breast Fibrocystic Disease disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 114 12
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