Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0578022 Finding of body mass index phenotype Finding 346 901
C1305855 Body mass index phenotype Clinical Attribute 346 901
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 314 922
C0005890 Body Height phenotype Organism Attribute 243 635
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the breast; Neoplasm 240 615
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 221 418
C0021704 Intelligence phenotype Behavior and Behavior Mechanisms Mental Process 202 663
C0206161 Reticulocyte count (procedure) phenotype Laboratory Procedure 201 472
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 200 418
C0750879 Eosinophil count result phenotype Laboratory or Test Result 200 418
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 192 544
C1519383 Smoking Behaviors phenotype Behavior and Behavior Mechanisms Individual Behavior 191 462
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 191 484
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 187 390
C0032181 Platelet Count measurement phenotype Laboratory Procedure 185 348
C0033860 Psoriasis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the integument 175 449
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 171 452
C0200665 Platelet mean volume determination (procedure) phenotype Laboratory Procedure 169 325
C0369183 Erythrocyte Mean Corpuscular Hemoglobin Test phenotype Laboratory Procedure 158 340
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 158 340
C0474566 Platelet hematocrit measurement phenotype Laboratory Procedure 154 258
C0021390 Inflammatory Bowel Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 152 331
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 150 405
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 127 339
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 126 331