Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0020545 Hypertension, Renovascular disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system; Abnormality of the cardiovascular system 41 7
C0021390 Inflammatory Bowel Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 1437 277
C0022735 Klinefelter Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease 148 18
C0023418 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 1984 138
C0023434 Chronic 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 1358 125
C0023440 Acute Erythroblastic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 289 4
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
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 155 9
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
C0023467 Leukemia, Myelocytic, Acute 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 2428 247
C0023470 Myeloid 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 348 7
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
C0023480 Leukemia, Myelomonocytic, 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 156 13
C0023481 Chronic Neutrophilic Leukemia disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 16 4
C0023518 Leukocytosis phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of blood and blood-forming tissues 121 2
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
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 1460 76
C0024314 Lymphoproliferative Disorders group Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process genetic disease; disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 280 13
C0024790 Paroxysmal nocturnal hemoglobinuria disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 132 12
C0024899 Mastocytosis disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Abnormality of blood and blood-forming tissues 94 8
C0025167 Megakaryocytic hyperplasia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 1
C0025202 melanoma disease Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 2890 352
C0026470 Monoclonal Gammopathy of Undetermined Significance disease Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity 221 12
C0026764 Multiple Myeloma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 1674 118
C0026987 Myelofibrosis disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of blood and blood-forming tissues 161 7