CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0546837 Malignant neoplasm of esophagus disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1286 214
C0014859 Esophageal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 1254 270
C1608408 Malignant transformation phenotype Neoplastic Process 1027 20
C0006118 Brain Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 1018 204
C0021051 Immunologic Deficiency Syndromes group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 973 31
C1335302 Pancreatic Ductal Adenocarcinoma disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 970 22
C1261473 Sarcoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 853 42
C0038356 Stomach Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 820 55
C0030297 Pancreatic Neoplasm disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 764 20
C4551686 Malignant neoplasm of soft tissue group Neoplasms Neoplastic Process disease of cellular proliferation 699 32
C0035412 Rhabdomyosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the musculature 565 20
C0281361 Adenocarcinoma of pancreas disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 518 138
C0013274 Patent ductus arteriosus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 510 56
C0032927 Precancerous Conditions group Neoplasms Neoplastic Process 471 18
C0345905 Intrahepatic Cholangiocarcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 470 19
C0553723 Squamous cell carcinoma of skin disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 458 92
C0086692 Benign Neoplasm group Neoplasms Neoplastic Process 371 7
C4284013 Primary cholangiocarcinoma of intrahepatic biliary tract disease Neoplasms Neoplastic Process 274 10
C0030354 Papilloma disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 273 27
C4551687 Sarcoma of soft tissue group Neoplasms Neoplastic Process Neoplasm 258 6
C4282128 PATENT DUCTUS ARTERIOSUS 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity 229 12
C0205697 Carcinoma, Spindle-Cell disease Neoplasms Neoplastic Process disease of cellular proliferation 218 5
C1301034 Pancreatic intraepithelial neoplasia disease Neoplasms Neoplastic Process 186 11
C0949541 Hurthle Cell Tumor disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 170 9
C0220645 Childhood Soft Tissue Sarcoma disease Neoplastic Process 166 3