CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0041296 Tuberculosis disease Infections Disease or Syndrome 1229 306
C0011881 Diabetic Nephropathy disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1109 208
C0524620 Metabolic Syndrome X disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; syndrome 1083 477
C0400966 Non-alcoholic Fatty Liver Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 1016 189
C3854222 Human immunodeficiency virus (HIV) II infection category B1 disease Disease or Syndrome 985 56
C0025517 Metabolic Diseases group Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 937 50
C0010674 Cystic Fibrosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 830 162
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 815 110
C0155626 Acute myocardial infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 765 118
C2363741 HIV-1 infection disease Disease or Syndrome 678 62
C0007785 Cerebral Infarction disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 676 123
C0022661 Kidney Failure, Chronic disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 659 191
C0024530 Malaria disease Infections Disease or Syndrome disease by infectious agent 658 90
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 616 390
C0011884 Diabetic Retinopathy disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 612 159
C0004623 Bacterial Infections group Infections Disease or Syndrome disease by infectious agent 604 17
C0374997 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site disease Disease or Syndrome 593 24
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 577 273
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 480 202
C0375023 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site disease Disease or Syndrome 467 14
C0010823 Cytomegalovirus Infections group Infections Disease or Syndrome 453 26
C0003872 Arthritis, Psoriatic disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 414 50
C0006287 Bronchopulmonary Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 403 100
C0220644 Childhood Hodgkin Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 29
C0278701 Gastric Adenocarcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 397 17