Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 578 1158
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0042834 Vital capacity phenotype Clinical Attribute 430 746
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1031
C0040420 Tonometry phenotype Diagnostic Procedure 205 572
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
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 252 551
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
C1861172 Venous Thromboembolism phenotype Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 95 193
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
C4317009 Diverticular Diseases group Digestive System Diseases Disease or Syndrome 56 88
C0948008 Ischemic stroke disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 51 89
C1704436 Peripheral Arterial Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 47 78
C2607914 Allergic rhinitis (disorder) disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 46 72
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 34 58
C0018213 Graves Disease disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 33 57
C0024530 Malaria disease Infections Disease or Syndrome disease by infectious agent 17 27
C0149871 Deep Vein Thrombosis disease Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 9 12
C0013295 Duodenal Ulcer disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 3 2
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 633 1159
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578 1158
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 593 988
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 250 495
C0750880 Monocyte count result phenotype Laboratory or Test Result 139 296