CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0005890 Body Height phenotype Organism Attribute 1903 3972
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C0596887 mathematical ability phenotype Mental Process 854 2126
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0205682 Waist-Hip Ratio phenotype Organism Attribute 562 1128
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
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 254 550
C0206161 Reticulocyte count (procedure) phenotype Laboratory Procedure 234 474
C0005612 Birth Weight phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 206 363
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 203 529
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 146 280
C0200633 Neutrophil count (procedure) phenotype Laboratory Procedure 145 234
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
C0022661 Kidney Failure, Chronic disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 107 236
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 62 123
C0023434 Chronic Lymphocytic Leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 62 118
C0855095 Small Lymphocytic Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 62 118
C0428568 Fasting blood glucose measurement phenotype Laboratory Procedure 57 114