Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 321 675
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 308 766
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 295 731
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
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C1314691 Age at menarche phenotype Behavior and Behavior Mechanisms Finding 265 548
C0016529 Forced expiratory volume function phenotype Organ or Tissue Function 264 1145
C0032181 Platelet Count measurement phenotype Laboratory Procedure 264 456
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 254 550
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
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 252 551
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 250 495
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
C0206161 Reticulocyte count (procedure) phenotype Laboratory Procedure 234 474
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 225 326
C1519383 Smoking Behaviors phenotype Behavior and Behavior Mechanisms Individual Behavior 218 426
C0005586 Bipolar Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 213 366
C0200665 Platelet mean volume determination (procedure) phenotype Laboratory Procedure 213 339
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
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
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 202 423
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