CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0005890 Body Height phenotype Organism Attribute 1903 3972
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156 2575
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 607 1133
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 353 951
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 353 844
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 321 675
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 308 766
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0032181 Platelet Count measurement phenotype Laboratory Procedure 264 456
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 252 551
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
C0206161 Reticulocyte count (procedure) phenotype Laboratory Procedure 234 474
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 225 326
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
C0005612 Birth Weight phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 206 363
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
C0600139 Prostate carcinoma disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 172 374
C0007102 Malignant tumor of colon disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 165 368