Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1336160 Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7 disease Neoplastic Process 3 0
C4688336 Childhood Malignant Solid Neoplasm disease Neoplastic Process 3 0
C1698088 Malignant Solid Neoplasm disease Neoplasms Neoplastic Process 4 0
C1708778 mucoepidermoid carcinoma of lung disease Neoplasms Neoplastic Process 4 0
C3839044 Compensated liver disease disease Digestive System Diseases Disease or Syndrome 4 0
C1112338 Apoptotic DNA damage disease Disease or Syndrome 7 0
C0333113 Sacculation disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 14 0
C0597984 Biliary stricture disease Digestive System Diseases Anatomical Abnormality 17 0
C1861861 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 21 18
C1332079 Anaplastic Large Cell Lymphoma, ALK-Positive disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0
C0026640 Mouth Neoplasms group Neoplasms; Stomatognathic Diseases Neoplastic Process Neoplasm; Abnormality of head or neck 26 0
C3809250 ESTROGEN RESISTANCE disease Disease or Syndrome 28 0
C0040411 Tongue Neoplasms group Neoplasms; Stomatognathic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of head or neck 30 0
C0158981 Neonatal diabetes mellitus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism 38 22
C4688007 Platinum-Resistant Ovarian Carcinoma disease Neoplastic Process 41 0
C0206702 Klatskin Tumor disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 50 0
C1839333 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 57 26
C0751122 Infantile Severe Myoclonic Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 58 32
C1708350 Hereditary Leiomyomatosis and Renal Cell Cancer disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Neoplastic Process Abnormality of the integument; Neoplasm 61 6
C2939461 Myeloid neoplasm disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 62 5
C0278622 Adult Malignant Peripheral Nerve Sheath Tumor disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 62 2
C0279987 Childhood Malignant Peripheral Nerve Sheath Tumor disease Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 62 2
C4551463 Colon adenoma disease Digestive System Diseases; Neoplasms Neoplastic Process 62 1
C0014599 Epithelial hyperplasia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 63 0
C0221271 Elastosis perforans serpiginosa disease Skin and Connective Tissue Diseases Disease or Syndrome 66 4