Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 302 18
C4021662 Abnormal endocardium morphology phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality Abnormality of the cardiovascular system 23 0
C3164445 Abnormality of aortic valve disease Anatomical Abnormality Abnormality of the cardiovascular system 50 2
C4021750 Abnormality of femur morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 33 1
C0234221 Acroparesthesia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 3 0
C0264714 Acute heart failure disease Cardiovascular Diseases Disease or Syndrome 89 0
C3850141 Acute-On-Chronic Liver Failure disease Digestive System Diseases Disease or Syndrome 140 5
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
C0002962 Angina Pectoris phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom Abnormality of the cardiovascular system 139 65
C0002985 Angiokeratoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Abnormality of the cardiovascular system 4 0
C0003123 Anorexia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 242 10
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1048 287
C0003862 Arthralgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom Constitutional symptom 248 27
C0003864 Arthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1072 69
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
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
C0004245 Atrioventricular Block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 63 17
C1145628 Autonomic nervous system disorders group Nervous System Diseases Disease or Syndrome 73 7
C0004604 Back Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 110 10
C0085166 Bacterial Vaginosis disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome disease of anatomical entity 73 15
C4732730 Blood spots disease Disease or Syndrome Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 117 0
C0553692 Brain hemorrhage phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 10 0
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 6776 2793
C0016034 Breast Fibrocystic Disease disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 114 12