Source: GWASCAT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 98 336
C0005890 Body Height phenotype Organism Attribute 1903 3972
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 225 326
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
C0008924 Cleft upper lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity; syndrome; physical disorder Abnormality of head or neck 45 98
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
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
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
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1031
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
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 623 1003
C0029489 Other alopecia phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 39 104
C0032181 Platelet Count measurement phenotype Laboratory Procedure 264 456
C0032460 Polycystic Ovary Syndrome disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome syndrome Abnormality of the genitourinary system 20 44
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
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 160 345
C0040420 Tonometry phenotype Diagnostic Procedure 205 572
C0162311 Androgenetic Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 39 104
C0200633 Neutrophil count (procedure) phenotype Laboratory Procedure 145 234
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 607 1133
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0201976 Creatinine measurement, serum (procedure) phenotype Laboratory Procedure 124 243
C0201983 Dehydroepiandrosterone sulfate measurement (procedure) phenotype Laboratory Procedure 18 27
C0202236 Triglycerides measurement phenotype Laboratory Procedure 324 837