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 1074 1390
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 616 281
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 538 763
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 527 316
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 248 212
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 159 416
C0279702 Conventional (Clear Cell) Renal Cell Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 148 19
C0919267 ovarian neoplasm 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 134 547
C1319315 Adenocarcinoma of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 96 420
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 72 99
C0029463 Osteosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 47 30
C0549473 Thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 44 41
C0024299 Lymphoma group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 40 19
C0040034 Thrombocytopenia phenotype Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 29 45
C0023473 Myeloid Leukemia, Chronic 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 29 31
C4721806 Carcinoma, Basal Cell disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 29 30
C0009319 Colitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 25 6
C0699791 Stomach Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 21 44
C0206754 Neuroendocrine Tumors group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 11 4
C0023269 leiomyosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 5 1
C0085390 Li-Fraumeni Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 4 184
C0018932 Hematochezia phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 4 2
C1336839 Type 1 Papillary Renal Cell Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1 14
C1836482 Li-Fraumeni Syndrome 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 1 11
C3469524 PROSTATE CANCER, SUSCEPTIBILITY TO phenotype Finding 1 6