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
C0205682 Waist-Hip Ratio phenotype Organism Attribute 562 1128
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1031
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
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
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 250 495
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
C0040420 Tonometry phenotype Diagnostic Procedure 205 572
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
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
C0200633 Neutrophil count (procedure) phenotype Laboratory Procedure 145 234