CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C0178874 Tumor Progression phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72
C0036690 Septicemia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of the immune system 1285 141
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
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
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47
C1328504 Hormone refractory prostate cancer disease Neoplasms; Male Urogenital Diseases Neoplastic Process 683 29
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545 1440
C0038525 Subarachnoid Hemorrhage disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 501 26
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
C0038002 Splenomegaly phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 345 19
C0002893 Refractory anemias disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 340 11
C2347761 Childhood Myelodysplastic Syndrome disease Hemic and Lymphatic Diseases Neoplastic Process 335 20
C3900098 Adult Myelodysplastic Syndrome disease Hemic and Lymphatic Diseases Neoplastic Process 332 20
C0242596 Neoplasm, Residual phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 329 23
C0023440 Acute Erythroblastic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5
C0005699 Blast Phase disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 299 14
C1306759 Eosinophilic disorder group Hemic and Lymphatic Diseases Disease or Syndrome 288 22
C0162557 Liver Failure, Acute disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 282 21
C0242647 Mucosa-Associated Lymphoid Tissue Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 264 13