CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 510
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 214
C0005411 Biliary Atresia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the digestive system 10
C0005940 Bone Diseases group Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 21
C0206695 Carcinoma, Neuroendocrine disease Neoplasms Neoplastic Process disease of cellular proliferation 20
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 131
C0007282 Carotid Stenosis disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 13
C0206698 Cholangiocarcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 73
C0009375 Colonic Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 378
C0010346 Crohn Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 118
C0014170 Endometrial Neoplasms group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 172
C0016059 Fibrosis phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 130
C0085167 Granular cell tumor disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6
C0018188 Granuloma phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Pathologic Function 22
C0019158 Hepatitis group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 48
C0524910 Hepatitis C, Chronic disease Digestive System Diseases; Infections Disease or Syndrome 68
C3714514 Infection group Infections Pathologic Function 489
C0021368 Inflammation phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 360
C0022650 Kidney Calculi disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 3
C0022661 Kidney Failure, Chronic disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 73
C0206139 Lichen Planus, Oral disease Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 20
C2239176 Liver carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 493
C0024115 Lung diseases group Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 42
C0024121 Lung Neoplasms group Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 557
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 188