Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0021704 Intelligence phenotype Behavior and Behavior Mechanisms Mental Process 643 2089
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 633 1159
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0205682 Waist-Hip Ratio phenotype Organism Attribute 562 1128
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
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
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
C1314691 Age at menarche phenotype Behavior and Behavior Mechanisms Finding 265 548
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 254 550
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
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 225 326
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
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 178 354
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 160 345
C0008313 Cholangitis, Sclerosing disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 149 276
C0018498 Hair Color phenotype Organism Attribute 126 294
C0428568 Fasting blood glucose measurement phenotype Laboratory Procedure 57 114
C0337438 Glucose measurement phenotype Laboratory Procedure 42 69
C0495706 elevated blood glucose level phenotype Finding 42 69
C0151779 Cutaneous Melanoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 32 42
C0153535 Malignant melanoma of skin of upper limb disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42