Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3548801 response to irinotecan phenotype Cell Function 1 7
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3397 1843
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 2803 824
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 2723 2387
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2359 710
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2322 1085
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 2096 1536
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 1577 605
C0019163 Hepatitis B disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1449 519
C1832661 ANOPHTHALMIA AND PULMONARY HYPOPLASIA disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 1410 80
C0014175 Endometriosis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1188 274
C0020456 Hyperglycemia disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 1098 108
C0023895 Liver diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 1019 100
C3854222 Human immunodeficiency virus (HIV) II infection category B1 disease Disease or Syndrome 985 56
C3266262 Multiple Chronic Conditions disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42
C3203102 Idiopathic pulmonary arterial hypertension disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system; Abnormality of the cardiovascular system 776 24
C2363741 HIV-1 infection disease Disease or Syndrome 695 94
C0019348 Herpes Simplex Infections group Infections; Skin and Connective Tissue Diseases Disease or Syndrome disease by infectious agent 645 11
C1565489 Renal Insufficiency disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 615 42
C0860207 Drug-Induced Liver Disease phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29
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 478 667
C0023530 Leukopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 440 153
C0022104 Irritable Bowel Syndrome disease Digestive System Diseases Disease or Syndrome syndrome 429 52
C0008370 Cholestasis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 420 15
C0015625 Fanconi Anemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 394 173