Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2322 1085
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1756 711
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1708 1577
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1576 1178
C0151744 Myocardial Ischemia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 756 103
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 440 139
C3489532 Cone-Rod Dystrophy 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 254 51
C1832661 ANOPHTHALMIA AND PULMONARY HYPOPLASIA disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 1410 80
C0008495 Chorioamnionitis phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity 132 2
C4551649 Congenital Dysplasia Of The Hip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 147 27
C0023529 Leukomalacia, Periventricular disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 62 10
C0742343 Acute Chest Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 405 135
C0001339 Acute pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 435 51
C0038354 Stomach Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity 70 3
C0860207 Drug-Induced Liver Disease phenotype Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 537 29
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1768 347
C0019163 Hepatitis B disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1449 519
C0003615 Appendicitis disease Digestive System Diseases; Infections Disease or Syndrome disease of anatomical entity 83 10
C0085693 Acute appendicitis NOS (disorder) disease Digestive System Diseases; Infections Disease or Syndrome 43 2
C2239176 Liver carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 5725 942
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962
C0024623 Malignant neoplasm of stomach disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 3806 615
C0699791 Stomach Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 3720 652
C0007570 Celiac Disease disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 527 263