Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
C0001883 Airway Obstruction group Respiratory Tract Diseases Disease or Syndrome 110 5
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0002893 Refractory anemias disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 340 11
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1048 287
C0003469 Anxiety Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 840 163
C0003578 Apnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 262 11
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 559 111
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2006 267
C0003864 Arthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1072 69
C0003872 Arthritis, Psoriatic disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 450 89
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
C0003949 Asbestosis disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome disease of anatomical entity 47 2
C0004031 Aspergillosis, Allergic Bronchopulmonary disease Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease by infectious agent 31 6
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
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281
C0004238 Atrial Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 939 584
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1758 428
C0004610 Bacteremia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of metabolism/homeostasis 233 7
C0004623 Bacterial Infections group Infections Disease or Syndrome disease by infectious agent 616 17
C0004936 Mental disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 789 149
C0005779 Blood Coagulation Disorders group Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of blood and blood-forming tissues 267 31
C0006266 Bronchospasm disease Respiratory Tract Diseases Disease or Syndrome Abnormality of the respiratory system 29 0
C0006267 Bronchiectasis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 190 15
C0006271 Bronchiolitis disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 118 32