CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6345 327
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6241 355
C1306460 Primary malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0686619 Secondary malignant neoplasm of lymph node disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188
C0280474 Childhood Glioblastoma disease Neoplasms Neoplastic Process 2527 98
C4086165 Childhood Neuroblastoma disease Neoplasms Neoplastic Process 2420 231
C3539878 Triple Negative Breast Neoplasms disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1673 96
C4722518 Triple-Negative Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1598 96
C0280100 Solid Neoplasm phenotype Neoplasms Neoplastic Process 1144 24
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C1608408 Malignant transformation phenotype Neoplastic Process 1027 20
C0494165 Secondary malignant neoplasm of liver disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47
C0220641 Lip and Oral Cavity Carcinoma disease Neoplasms; Stomatognathic Diseases Neoplastic Process 729 167
C0153381 Malignant neoplasm of mouth group Neoplasms; Stomatognathic Diseases Neoplastic Process 720 172
C4521042 Complete Trisomy 21 Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77
C0037284 Skin lesion group Skin and Connective Tissue Diseases Disease or Syndrome 563 51
C0002793 Anaplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7
C2938924 Oestrogen receptor positive breast cancer disease Neoplastic Process 504 46
C3811653 Experimental Organism Basal Cell Carcinoma phenotype Neoplasms Neoplastic Process 437 63
C0220644 Childhood Hodgkin Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 29
C0524909 Hepatitis B, Chronic disease Digestive System Diseases; Infections Disease or Syndrome 396 70
C1302401 Adenoma of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process 393 102
C0220612 Childhood Non-Hodgkin Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 371 39