CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0740302 5q-syndrome disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 45 1
C0272362 Acquired von Willebrand's disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 8 1
C0001206 Acromegaly disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the endocrine system 138 25
C0600433 Activated Protein C Resistance disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 41 30
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
C0023440 Acute Erythroblastic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5
C2930974 Acute erythroleukemia disease Neoplasms; Hemic and Lymphatic Diseases Disease or Syndrome 13 1
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 639 50
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 1293 222
C0023462 Acute Megakaryocytic Leukemias 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 159 15
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 633 22
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 2438 563
C0001546 Adjustment Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 9 4
C2347748 Adult Erythroleukemia disease Neoplastic Process 236 4
C1332206 Adult Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1169 66
C3900098 Adult Myelodysplastic Syndrome disease Hemic and Lymphatic Diseases Neoplastic Process 332 20
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0740992 anemia hemoglobin disease Disease or Syndrome 6 1
C0852949 Arteriopathic disease group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 101 14
C0242584 Autoimmune thrombocytopenia disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 115 7
C1868683 B-CELL MALIGNANCY, LOW-GRADE disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 350 19
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
C0005699 Blast Phase disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 299 14
C0005779 Blood Coagulation Disorders group Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of blood and blood-forming tissues 267 31
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 6776 2793