Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0861772 Stage IV Rectal Carcinoma disease Neoplastic Process 4 0
C4544791 PIK3CA related overgrowth syndrome disease Disease or Syndrome 4 0
C4721661 Stage IV Lung Squamous Cell Carcinoma AJCC v7 disease Neoplastic Process 4 0
C1333431 EBV-Related Lymphoma disease Neoplastic Process 5 1
C0240958 sciatic nerve pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 0
C1332912 Cervical Clear Cell Adenocarcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 5 0
C1335367 Parotid Gland Squamous Cell Carcinoma disease Neoplastic Process 5 0
C1610069 Circulatory depression disease Disease or Syndrome 5 0
C4013425 Neuroendocrine cervical carcinoma disease Neoplasms Neoplastic Process 5 0
C4041147 Acute exacerbation of chronic obstructive bronchitis disease Infections; Respiratory Tract Diseases Disease or Syndrome 5 0
C4727392 Recurrent Salivary Duct Carcinoma disease Neoplastic Process 5 0
C0265552 Congenital macrodactylia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 6 2
C4225270 Kosaki overgrowth syndrome disease Disease or Syndrome 6 2
C0276168 Egg drop syndrome disease Infections Disease or Syndrome 6 0
C1328402 Metastatic glioma disease Neoplasms Neoplastic Process 6 0
C1861906 Breast Cancer, Familial Male disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6 0
C2363955 Venous reflux disease Disease or Syndrome 6 0
C3812874 Endometrioid intraepithelial neoplasia disease Neoplastic Process 6 0
C4055466 Soft Tissue Angiosarcoma disease Neoplasms Neoplastic Process 6 0
C4687446 Refractory Glioblastoma disease Neoplasms Neoplastic Process 6 0
C1701919 EBV viremia disease Disease or Syndrome 7 1
C0206620 Lymphangioma, Cystic disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of head or neck 7 0
C0206713 Papilloma, Intraductal disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 7 0
C0271713 Ketotic hypoglycemia phenotype Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 7 0
C0813148 Metastatic Endometrial Carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 7 0