Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0346153 Breast Cancer, Familial disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 183 91
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
C4721610 Carcinoma, Ovarian Epithelial disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2841 327
C0009402 Colorectal Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 5473 1962
C0151908 Dry skin phenotype Skin and Connective Tissue Diseases Sign or Symptom Abnormality of the integument 159 12
C0014175 Endometriosis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1188 274
C0677886 Epithelial ovarian cancer disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1224 129
C0235782 Gallbladder Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 498 75
C0677776 Hereditary Breast and Ovarian Cancer Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process genetic disease; syndrome 74 2117
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6941 3417
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0153452 Malignant neoplasm of gallbladder disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 425 81
C1140680 Malignant neoplasm of ovary disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2563 315
C4551686 Malignant neoplasm of soft tissue group Neoplasms Neoplastic Process disease of cellular proliferation 699 32
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8621 1641
C0023473 Myeloid Leukemia, Chronic disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1172 115
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327
C0007131 Non-Small Cell Lung Carcinoma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 3926 712
C0919267 ovarian neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2542 757
C1306459 Primary malignant neoplasm group Neoplasms Neoplastic Process disease of cellular proliferation 8221 1374
C1261473 Sarcoma group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 853 42
C4721579 Secondary malignant neoplasm of colon and/or rectum disease Digestive System Diseases; Neoplasms Neoplastic Process 397 68
C1167791 Skin toxicity disease Disease or Syndrome 62 24
C1168401 Squamous cell carcinoma of the head and neck disease Neoplasms Neoplastic Process disease of cellular proliferation 1543 348
C4525297 Stage 0 Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56