Source: GWASCAT

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
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 633 1159
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 607 1133
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 593 988
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 593 988
C0205682 Waist-Hip Ratio phenotype Organism Attribute 562 1128
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
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
C0202236 Triglycerides measurement phenotype Laboratory Procedure 324 837
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
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0032181 Platelet Count measurement phenotype Laboratory Procedure 264 456
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 253 667
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 250 495
C0206161 Reticulocyte count (procedure) phenotype Laboratory Procedure 234 474
C0600139 Prostate carcinoma disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 172 374
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
C0424678 Lean body mass phenotype Clinical Attribute 143 208
C0200637 Monocyte count procedure phenotype Laboratory Procedure 139 296
C0750880 Monocyte count result phenotype Laboratory or Test Result 139 296
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 130 199