Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
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
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
C0202236 Triglycerides measurement phenotype Laboratory Procedure 324 837
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 254 550
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 250 495
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 202 423
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 179 399
C0200633 Neutrophil count (procedure) phenotype Laboratory Procedure 145 234
C0428886 Mean blood pressure phenotype Finding 136 326
C0201657 C-reactive protein measurement phenotype Laboratory Procedure 100 250
C0857490 Granulocyte count phenotype Laboratory Procedure 100 150
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
C0007570 Celiac Disease disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 87 178
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 86 169
C0201899 Aspartate aminotransferase measurement phenotype Laboratory Procedure 57 76
C0524620 Metabolic Syndrome X disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; syndrome 55 124