CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0751633 Carotid Artery Plaque disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 41 3
C0679362 Tuberculosis, extrapulmonary disease Infections Disease or Syndrome 58 21
C0003165 Anthracosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 65 37
C0677898 invasive cancer phenotype Neoplasms Neoplastic Process 146 15
C4733095 HER2-negative breast cancer disease Neoplastic Process 160 18
C0740394 Hyperuricemia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 196 76
C0577631 Carotid Atherosclerosis disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 219 79
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 243 42
C1960398 HER2-positive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 288 26
C0041327 Tuberculosis, Pulmonary disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 358 171
C0036202 Sarcoidosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 413 787
C0162871 Aortic Aneurysm, Abdominal disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 586 90
C2363741 HIV-1 infection disease Disease or Syndrome 695 94
C3854222 Human immunodeficiency virus (HIV) II infection category B1 disease Disease or Syndrome 985 56
C0022658 Kidney Diseases group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1180 140
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 1428 852
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1708 1577
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1768 347
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1800 1022
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1800 680
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2078 990
C0007134 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 2084 288
C0699885 Carcinoma of bladder 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 2104 309
C0005684 Malignant neoplasm of urinary bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2113 316