CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355
C0600139 Prostate carcinoma disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4388 1168
C0178874 Tumor Progression phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72
C0235974 Pancreatic carcinoma disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2689 322
C1332977 Childhood Leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1740 140
C0243026 Sepsis disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome disease by infectious agent 1453 144
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C1332979 Childhood Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1171 66
C1332206 Adult Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1169 66
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0598766 Leukemogenesis disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110
C1961102 Precursor Cell Lymphoblastic Leukemia Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 879 168
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47
C0151744 Myocardial Ischemia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 756 103
C1328504 Hormone refractory prostate cancer disease Neoplasms; Male Urogenital Diseases Neoplastic Process 683 29
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545 1440
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 502 243
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486 1243
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 483 1142
C1292769 Precursor B-cell lymphoblastic leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 478 23
C0742343 Acute Chest Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 405 135