CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 577 273
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 752 118
C0003469 Anxiety Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 807 144
C0860603 Anxiety symptoms phenotype Sign or Symptom 110 10
C3178782 Aortic Stiffness phenotype Disease or Syndrome Abnormality of the cardiovascular system 59 3
C1853230 Aphakia, congenital primary disease Eye Diseases Congenital Abnormality disease of anatomical entity 13 1
C0003578 Apnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 97 4
C0852949 Arteriopathic disease group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 101 14
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1995 266
C0003864 Arthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 992 66
C0003872 Arthritis, Psoriatic disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 414 50
C0022408 Arthropathy group Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 172 10
C0003949 Asbestosis disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome disease of anatomical entity 35 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 1731 714
C0347950 Asthma attack disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 32 1
C0865800 asthma with copd disease Disease or Syndrome 29 0
C0264423 Asthma, Occupational disease Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 33 2
C4038730 Asthma-chronic obstructive pulmonary disease overlap syndrome disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 11 0
C1319018 Asthmatic bronchitis disease Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 2 0
C0340076 Asthmatic pulmonary eosinophilia disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 62 1
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1998 271
C0004238 Atrial Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 759 233
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 1679 213
C0004610 Bacteremia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of metabolism/homeostasis 228 5