Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0005890 Body Height phenotype Organism Attribute 1903 3972
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156 2575
C0596887 mathematical ability phenotype Mental Process 854 2126
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 607 1133
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 578 1433
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 250 495
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
C0040420 Tonometry phenotype Diagnostic Procedure 205 572
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
C0008074 Child Development Disorders, Pervasive group Mental Disorders Mental or Behavioral Dysfunction 165 379
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 107 198
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 91 177
C0149782 Squamous cell carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 66 110
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 62 123
C0149745 Oral Ulcer disease Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck 50 94
C0011615 Dermatitis, Atopic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 44 89
C0003872 Arthritis, Psoriatic disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 36 44
C0039263 Takayasu Arteritis disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome syndrome 20 36
C0577608 C4 complement assay (procedure) phenotype Laboratory Procedure 11 13
C0027873 Neuromyelitis Optica disease Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1 2