Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0005684 Malignant neoplasm of urinary bladder disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2063 289
C0005695 Bladder Neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2055 278
C0279626 Squamous cell carcinoma of esophagus disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2021 320
C0476089 Endometrial Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1555 233
C0007103 Malignant neoplasm of endometrium disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1231 197
C0001430 Adenoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1126 103
C0024121 Lung Neoplasms group Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 1020 39
C0278488 Carcinoma breast stage IV disease Neoplastic Process 573 14
C0002793 Anaplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7
C0235782 Gallbladder Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 498 65
C1857276 Trichohepatoenteric Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease 424 28
C0153452 Malignant neoplasm of gallbladder disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 421 65
C0238461 Anaplastic thyroid carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 391 16
C0677932 Progressive Neoplastic Disease phenotype Neoplastic Process 384 40
C3539781 Progressive cGVHD disease Disease or Syndrome 384 40
C4721579 Secondary malignant neoplasm of colon and/or rectum disease Digestive System Diseases; Neoplasms Neoplastic Process 380 40
C4525300 Stage IIA Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525301 Stage IIB Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525305 Stage IV Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525297 Stage 0 Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C4525302 Stage III Gallbladder Cancer AJCC v8 disease Neoplastic Process 367 56
C1960398 HER2-positive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 288 26
C1176475 Ductal Carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 240 11
C1301034 Pancreatic intraepithelial neoplasia disease Neoplasms Neoplastic Process 186 11
C0750952 Biliary Tract Cancer disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 165 11