CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0523465 Serum albumin measurement phenotype Laboratory Procedure 426 3265
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 353 4267
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 284 681
C0428472 Serum HDL cholesterol measurement phenotype Laboratory Procedure 283 679
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 166 388
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 143 477
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 125 534
C0005823 Blood Pressure phenotype Organism Function 85 190
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 61 480
C0014859 Esophageal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 56 107
C1269683 Major Depressive Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 33 171
C0546837 Malignant neoplasm of esophagus disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 24 44
C0205682 Waist-Hip Ratio phenotype Organism Attribute 19 33
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 18 127
C0020676 Hypothyroidism disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 11 42
C0005845 Blood urea nitrogen measurement phenotype Laboratory Procedure 10 14
C0039685 Tetralogy of Fallot disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 9 14
C0013124 Drinking behavior processes disease Behavior and Behavior Mechanisms Individual Behavior 7 31
C0202035 Gamma glutamyl transferase measurement phenotype Laboratory Procedure 5 7