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
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
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
C0200633 Neutrophil count (procedure) phenotype Laboratory Procedure 145 234
C0201976 Creatinine measurement, serum (procedure) phenotype Laboratory Procedure 124 243
C0857490 Granulocyte count phenotype Laboratory Procedure 100 150
C4049090 Alopecia, Androgenetic, 1 disease Disease or Syndrome disease of anatomical entity 39 104
C0201983 Dehydroepiandrosterone sulfate measurement (procedure) phenotype Laboratory Procedure 18 27
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 252 551
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 225 326
C0008924 Cleft upper lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity; syndrome; physical disorder Abnormality of head or neck 45 98
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
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
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