CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0005890 Body Height phenotype Organism Attribute 1903 3972
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0021704 Intelligence phenotype Behavior and Behavior Mechanisms Mental Process 643 2089
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 353 951
C0202236 Triglycerides measurement phenotype Laboratory Procedure 324 837
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 308 766
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 239 616
C0033860 Psoriasis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 237 485
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 225 326
C0200665 Platelet mean volume determination (procedure) phenotype Laboratory Procedure 213 339
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 211 464
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 185 439
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 178 354
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 160 345
C0008313 Cholangitis, Sclerosing disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 149 276
C0424574 Duration of sleep phenotype Finding 101 200
C0201657 C-reactive protein measurement phenotype Laboratory Procedure 100 250
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 62 118
C0855095 Small Lymphocytic Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 62 118
C0005823 Blood Pressure phenotype Organism Function 30 36