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
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
C0002986 Fabry Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the integument; Abnormality of the cardiovascular system 108 206
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
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 559 111
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
C0004604 Back Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 110 10
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C0006309 Brucellosis disease Infections Disease or Syndrome disease by infectious agent 92 30
C0006384 Bundle-Branch Block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 12 0
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 560 635
C0007787 Transient Ischemic Attack disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 344 16
C0007820 Cerebrovascular Disorders group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 233 56
C0010036 Corneal dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 113 25
C0010038 Corneal Opacity phenotype Eye Diseases Finding Abnormality of the eye 113 5
C0011581 Depressive disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1719 297
C0011848 Diabetes Insipidus disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 57 3