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
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1031
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 353 951
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
C0202236 Triglycerides measurement phenotype Laboratory Procedure 324 837
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 308 766
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 254 550
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
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 202 423
C0004238 Atrial Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 159 362
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0201657 C-reactive protein measurement phenotype Laboratory Procedure 100 250
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 86 169
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 75 138
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 71 199
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 63 104
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 63 104
C0428568 Fasting blood glucose measurement phenotype Laboratory Procedure 57 114
C0524620 Metabolic Syndrome X disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; syndrome 55 124
C0018099 Gout disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 55 92