CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0596887 mathematical ability phenotype Mental Process 854 2126
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 685 1141
C0021704 Intelligence phenotype Behavior and Behavior Mechanisms Mental Process 643 2089
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 633 1159
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
C0036341 Schizophrenia disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 578 1433
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 578 1158
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578 1158
C1269683 Major Depressive Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 374 963
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 250 495
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
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 179 399
C0525045 Mood Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 99 218
C0202202 Protein measurement group Laboratory Procedure 62 74
C0008312 Primary biliary cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 49 107
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
C0263361 Psoriasis vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome 28 35
C0023892 Biliary cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 21 35
C3897558 Soluble Interleukin 6 Receptor Measurement phenotype Laboratory Procedure 17 25
C2697758 Interleukin 10 Measurement phenotype Laboratory Procedure 14 24
C3815172 Interleukin 1 Beta Measurement phenotype Laboratory Procedure 11 149
C2825877 Interferon Gamma Measurement phenotype Laboratory Procedure 5 10