Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156 2575
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
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 578 1158
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578 1158
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0042834 Vital capacity phenotype Clinical Attribute 430 746
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
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
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 250 495
C0206161 Reticulocyte count (procedure) phenotype Laboratory Procedure 234 474
C0040420 Tonometry phenotype Diagnostic Procedure 205 572
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
C3828530 Platelet Component Distribution Width Measurement phenotype Laboratory Procedure 134 200