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
C4021780 Abnormality of the liver phenotype Finding Abnormality of the digestive system 75 8
C1849618 Accelerated atherosclerosis phenotype Cardiovascular Diseases Finding Abnormality of the cardiovascular system 7 0
C0155626 Acute myocardial infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 766 118
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 2438 563
C0278878 Adult Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2528 98
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 685 663
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535
C2607914 Allergic rhinitis (disorder) disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 446 176
C1843013 Alzheimer disease, familial, type 3 disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity 213 124
C0494463 Alzheimer Disease, Late Onset disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 385 243
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
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 694 93
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0002895 Anemia, Sickle Cell disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 434 138
C0017605 Angle Closure Glaucoma disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 94 56
C0085278 Antiphospholipid Syndrome disease Immune System Diseases Disease or Syndrome disease of anatomical entity 99 17
C0162871 Aortic Aneurysm, Abdominal disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 586 90
C0342898 Apolipoprotein A-I deficiency phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Pathologic Function 2 0
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2006 267
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 206 2356
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
C1563937 Atherogenesis phenotype Cardiovascular Diseases Pathologic Function 59 0
C4524040 Atherogenic dyslipidaemia disease Disease or Syndrome 36 9
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281