CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1704272 Benign Prostatic Hyperplasia disease Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 755 62
C0346153 Breast Cancer, Familial disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 174 90
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
C4721610 Carcinoma, Ovarian Epithelial disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2827 321
C4048328 cervical cancer disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1809 257
C0302592 Cervix carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1873 266
C1332986 Childhood Osteosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2208 151
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5011 1186
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1575 156
C0206650 Fibroadenoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 145 1
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1391 120
C4733095 HER2-negative breast cancer disease Neoplastic Process 160 18
C1960398 HER2-positive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 288 26
C0853879 Invasive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6481 2154
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0153452 Malignant neoplasm of gallbladder disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 421 65
C1140680 Malignant neoplasm of ovary disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2520 246
C0376358 Malignant neoplasm of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system 4264 861
C0007115 Malignant neoplasm of thyroid disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 949 103
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8577 1441
C0007847 Malignant tumor of cervix disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1718 245
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 2140 78
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6345 327
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10153 1571