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
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 578 1158
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578 1158
C0205682 Waist-Hip Ratio phenotype Organism Attribute 562 1128
C0042834 Vital capacity phenotype Clinical Attribute 430 746
C0037369 Smoking phenotype Behavior and Behavior Mechanisms Individual Behavior disease of mental health 391 765
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
C0016529 Forced expiratory volume function phenotype Organ or Tissue Function 264 1145
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 253 667
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
C0033860 Psoriasis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 237 485
C1519383 Smoking Behaviors phenotype Behavior and Behavior Mechanisms Individual Behavior 218 426
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
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 185 439
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
C0600139 Prostate carcinoma disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 172 374
C4049938 Physical Activity Measurement phenotype Laboratory Procedure 160 355
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 160 345
C0008313 Cholangitis, Sclerosing disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 149 276
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 146 280
C0424678 Lean body mass phenotype Clinical Attribute 143 208
C0005938 Bone Density phenotype Clinical Attribute 135 361
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 130 199