CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 268 231
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 221 1232
C0400966 Non-alcoholic Fatty Liver Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 70 47
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 63 475
C0033860 Psoriasis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 57 501
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 50 792
C0022661 Kidney Failure, Chronic disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 48 236
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 35 357
C0019163 Hepatitis B disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 32 273
C0020557 Hypertriglyceridemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome 15 18
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 11 363
C0337443 Sodium measurement phenotype Laboratory Procedure 11 69
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 10 154
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 9 2348
C0008313 Cholangitis, Sclerosing disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 6 276
C0236664 Alcohol-Related Disorders group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 4 180
C0242216 Biliary calculi phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 4 31
C0451641 Urolithiasis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 17
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 1 2345
C0236970 Alcohol-Induced Disorders group Chemically-Induced Disorders Disease or Syndrome disease of mental health 1 180
C0005890 Body Height phenotype Organism Attribute 0 3972
C0523465 Serum albumin measurement phenotype Laboratory Procedure 0 3282
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 0 2575
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 0 1463
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 0 1440