Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
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
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 308 766
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
C1314691 Age at menarche phenotype Behavior and Behavior Mechanisms Finding 265 548
C0032181 Platelet Count measurement phenotype Laboratory Procedure 264 456
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 254 550
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
C0005612 Birth Weight phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 206 363
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 203 529
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 202 423
C0201657 C-reactive protein measurement phenotype Laboratory Procedure 100 250
C0919267 ovarian neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 61 106
C1278049 Serum gamma-glutamyl transferase measurement phenotype Laboratory Procedure 53 105
C1335177 Ovarian Serous Adenocarcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 34 58
C0242216 Biliary calculi phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 30 31
C2242817 Homocysteine measurement phenotype Laboratory Procedure 23 33
C0201952 Chloride measurement phenotype Laboratory Procedure 16 19