Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0206650 Fibroadenoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 145 1
C4733095 HER2-negative breast cancer disease Neoplastic Process 160 18
C0853879 Invasive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21
C1960398 HER2-positive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 288 26
C1704272 Benign Prostatic Hyperplasia disease Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 755 62
C0153452 Malignant neoplasm of gallbladder disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 421 65
C1458155 Mammary Neoplasms group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 2140 78
C2939419 Secondary Neoplasm group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85
C0346153 Breast Cancer, Familial disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 174 90
C0007115 Malignant neoplasm of thyroid disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 949 103
C0040136 Thyroid Neoplasm disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 1081 114
C0549473 Thyroid carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 1152 116
C0018801 Heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1391 120
C0585442 Osteosarcoma of bone disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2247 151
C1332986 Childhood Osteosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2208 151
C0029463 Osteosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 2255 155
C0018802 Congestive heart failure disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1575 156
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 2357 229
C0007847 Malignant tumor of cervix disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1718 245
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 2520 246
C4048328 cervical cancer disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1809 257
C0302592 Cervix carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1873 266
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 2827 321
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6345 327
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502