Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
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
C0206623 Adenosquamous carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 101 3
C1321546 Anaplastic large B-cell lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 17 1
C0004763 Barrett Esophagus disease Digestive System Diseases; Neoplasms Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Neoplasm 478 60
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 6776 2793
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4081 1204
C0206704 Carcinoma, Large Cell disease Neoplasms Neoplastic Process disease of cellular proliferation 90 6
C0262584 Carcinoma, Small Cell disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 185 7
C0205697 Carcinoma, Spindle-Cell disease Neoplasms Neoplastic Process disease of cellular proliferation 218 5
C0206708 Cervical Intraepithelial Neoplasia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 398 29
C1332922 Cervical Squamous Intraepithelial Neoplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 109 3
C0686377 CNS metastases phenotype Neoplasms; Nervous System Diseases Neoplastic Process 102 14
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962
C0729233 Dissecting aneurysm of the thoracic aorta disease Cardiovascular Diseases Disease or Syndrome 57 3
C1960925 Epidermal growth factor receptor positive non-small cell lung cancer disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4 1
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0677607 Hashimoto Disease disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system; Abnormality of the immune system 335 131
C1512127 HER2 gene amplification disease Disease or Syndrome 170 14
C1960398 HER2-positive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 288 26
C0020312 Hydrothorax disease Respiratory Tract Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the respiratory system 8 1
C1265996 Large cell neuroendocrine carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 91 3
C0280324 Laryngeal Squamous Cell Carcinoma disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 504 30
C0751297 Leptomeningeal Neoplasms disease Neoplasms; Nervous System Diseases Neoplastic Process 17 3
C0221505 Lesion of brain group Disease or Syndrome 188 9