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
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 578 1433
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
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 282 744
C0016529 Forced expiratory volume function phenotype Organ or Tissue Function 264 1145
C0005612 Birth Weight phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 206 363
C0040420 Tonometry phenotype Diagnostic Procedure 205 572
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 203 529
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0518015 Hemoglobin measurement phenotype Laboratory Procedure 129 209
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 104 198
C0424574 Duration of sleep phenotype Finding 101 200
C1518922 peak expiratory flow (procedure) phenotype Laboratory Procedure 74 119
C0428568 Fasting blood glucose measurement phenotype Laboratory Procedure 57 114
C0029410 Osteoarthritis of hip disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 49 81
C0337438 Glucose measurement phenotype Laboratory Procedure 42 69
C0495706 elevated blood glucose level phenotype Finding 42 69
C0202230 Thyroid stimulating hormone measurement phenotype Laboratory Procedure 39 75