CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0243026 Sepsis disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome disease by infectious agent 1340 139
C0023449 Acute lymphocytic leukemia disease Neoplasms; Immune System Diseases; 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 1289 211
C0036690 Septicemia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of the immune system 1279 139
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1262 440
C0041296 Tuberculosis disease Infections Disease or Syndrome 1229 306
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
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 1156 95
C0948008 Ischemic stroke disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 1104 586
C0023890 Liver Cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 1099 171
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0598766 Leukemogenesis disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25
C3463824 MYELODYSPLASTIC SYNDROME group Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 975 79
C0019829 Hodgkin Disease disease 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 829 70
C0376545 Hematologic Neoplasms group 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 820 47
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 815 110
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 776 54
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47
C3203102 Idiopathic pulmonary arterial hypertension disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system; Abnormality of the cardiovascular system 695 24
C1328504 Hormone refractory prostate cancer disease Neoplasms; Male Urogenital Diseases Neoplastic Process 683 29
C0023465 Acute monocytic leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 612 22
C0085669 Acute leukemia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 602 50
C0151744 Myocardial Ischemia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 585 103
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 573 79
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 480 202