CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10161 1644
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327
C0153676 Secondary malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20
C0013274 Patent ductus arteriosus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 510 56
C0018553 Hamartoma Syndrome, Multiple disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity 270 139
C3642347 Basal-Like Breast Carcinoma disease Neoplastic Process 245 9
C4282128 PATENT DUCTUS ARTERIOSUS 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity 229 12
C0391826 Lhermitte-Duclos disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity Abnormality of the nervous system 41 83
C1959582 PTEN Hamartoma Tumor Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity; syndrome 17 194
C1866398 Proteus-Like Syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4 56
C1834711 CEREBELLOPARENCHYMAL DISORDER VI disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 56
C1866376 Pten Hamartoma Tumor Syndrome With Granular Cell Tumor disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity 3 56
C1834712 Cerebellar Granule Cell Hypertrophy and Megalencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 3 56