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
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578 1158
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
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 86 169
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
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
C0235974 Pancreatic carcinoma disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 42 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
C0699791 Stomach Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 20 22
C0024530 Malaria disease Infections Disease or Syndrome disease by infectious agent 17 27
C0034065 Pulmonary Embolism disease Respiratory Tract Diseases; Cardiovascular Diseases Pathologic Function disease of anatomical entity Abnormality of the respiratory system; Abnormality of the cardiovascular system 9 12
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
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156 2575
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 633 1159
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 607 1133
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 593 988
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 593 988
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0042834 Vital capacity phenotype Clinical Attribute 430 746