Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1031
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 353 951
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 254 550
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 250 495
C0428886 Mean blood pressure phenotype Finding 136 326
C0201976 Creatinine measurement, serum (procedure) phenotype Laboratory Procedure 124 243
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 91 177
C0005845 Blood urea nitrogen measurement phenotype Laboratory Procedure 90 174
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 86 165
C0201899 Aspartate aminotransferase measurement phenotype Laboratory Procedure 57 76
C1278049 Serum gamma-glutamyl transferase measurement phenotype Laboratory Procedure 53 105
C0337438 Glucose measurement phenotype Laboratory Procedure 42 69
C0495706 elevated blood glucose level phenotype Finding 42 69
C0337443 Sodium measurement phenotype Laboratory Procedure 42 69
C1883008 Serum Alanine Aminotransferase Measurement phenotype Laboratory Procedure 41 77
C0201836 Alanine aminotransferase measurement phenotype Laboratory Procedure 41 77
C0030605 Activated Partial Thromboplastin Time measurement phenotype Laboratory Procedure 16 22
C0201952 Chloride measurement phenotype Laboratory Procedure 16 19