Source: GWASDB

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 353 4267
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 278 652
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 269 555
C0428474 Serum LDL cholesterol measurement phenotype Laboratory Procedure 269 555
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 201 488
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 166 388
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 143 477
C0018099 Gout disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 114 2275
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 113 2272
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 110 263
C0005823 Blood Pressure phenotype Organism Function 85 190
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 72 561
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 61 480
C0042900 Vitiligo disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 61 121
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 53 107
C0032181 Platelet Count measurement phenotype Laboratory Procedure 53 65
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 49 104
C0021053 Immune System Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity 49 104
C0019163 Hepatitis B disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 47 265
C0007570 Celiac Disease disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 45 109
C0200665 Platelet mean volume determination (procedure) phenotype Laboratory Procedure 41 77
C1561643 Chronic Kidney Diseases group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 35 54
C1272321 Autoantibody measurement phenotype Laboratory Procedure 26 49
C1306620 Systolic blood pressure measurement phenotype Diagnostic Procedure 25 35
C1305849 Diastolic blood pressure measurement phenotype Diagnostic Procedure 19 30