Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C1868683 B-CELL MALIGNANCY, LOW-GRADE disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 350 19
C0028259 Nodule phenotype Acquired Abnormality 278 19
C1511789 Desmoplastic disease Disease or Syndrome 117 4
C4049272 Tumour budding disease Neoplastic Process 71 8
C3160815 Intraductal papillary mucinous neoplasm disease Neoplastic Process 50 2
C4525119 Stage II Colon Cancer AJCC v8 disease Neoplastic Process 48 3
C3146257 Stage II Colon Cancer AJCC v7 disease Neoplastic Process 48 3
C0279645 Childhood Acute Monoblastic Leukemia disease Neoplastic Process 19 5
C0278506 Non-small cell lung cancer stage III disease Neoplastic Process 16 1
C4698657 T-cell lymphoblastic leukemia/lymphoma disease Neoplastic Process 6 1
C4302356 Primary low grade serous adenocarcinoma of ovary disease Neoplastic Process 1 1
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
C4282128 PATENT DUCTUS ARTERIOSUS 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity 229 12
C0003857 Congenital arteriovenous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 163 23
C0032580 Adenomatous Polyposis Coli disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process genetic disease 609 237
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
C0334533 Arteriovenous hemangioma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 76 14
C2674723 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 6 14
C4552097 Nevus Sebaceus of Jadassohn disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome syndrome Abnormality of the integument 12 7
C0265329 Organoid Nevus Phakomatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome syndrome 7 9
C0917804 Arteriovenous Malformations, Cerebral group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the cardiovascular system 35 6
C0149521 Pancreatitis, Chronic disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the immune system 379 56
C0019163 Hepatitis B disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1449 519