Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 221 1232
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 116 1
C0205641 Adenocarcinoma, Basal Cell disease Neoplasms Neoplastic Process 116 0
C0205642 Adenocarcinoma, Oxyphilic disease Neoplasms Neoplastic Process 116 0
C0205643 Carcinoma, Cribriform disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 116 0
C0205644 Carcinoma, Granular Cell disease Neoplasms Neoplastic Process disease of cellular proliferation 116 0
C0205645 Adenocarcinoma, Tubular disease Neoplasms Neoplastic Process disease of cellular proliferation 116 0
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 57 470
C0018781 Noise-induced hearing loss disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Injury or Poisoning 22 1
C1843687 ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 22 1
C0035828 Romano-Ward Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 16 15
C0021841 Intestinal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12 0
C0346627 Intestinal Cancer disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12 0
C0023976 Long QT Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 11 245
C0004903 Beckwith-Wiedemann Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease; syndrome 7 83
C1865020 Short QT Syndrome 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 4 6
C0340493 Paroxysmal familial ventricular fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 4 3
C4551509 Jervell And Lange-Nielsen Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2 23
C0022387 Jervell-Lange Nielsen Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2 7
C0857439 Pituitary hormone deficiency phenotype Finding 2 0
C4551647 Long QT Syndrome 1 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 230
C1837014 Atrial Fibrillation, Familial, 3 disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1 10
C1865019 SHORT QT SYNDROME 2 (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1 9
C2348199 Short Qt Syndrome disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1 0