Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001206 Acromegaly disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the endocrine system 135 25
C0001546 Adjustment Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 8 4
C0001815 Primary Myelofibrosis disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 263 25
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 573 79
C0002890 Leukoerythroblastic Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 1 1
C0002893 Refractory anemias disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 333 11
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 480 202
C0005699 Blast Phase disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 295 14
C0005779 Blood Coagulation Disorders group Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of blood and blood-forming tissues 233 27
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6481 2154
C0006826 Malignant Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 8577 1441
C0007131 Non-Small Cell Lung Carcinoma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 3882 601
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47
C0009812 Constitutional Symptom phenotype Sign or Symptom Constitutional symptom 30 1
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1262 440
C0014122 Subacute Bacterial Endocarditis disease Infections; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 12 1
C0014457 Eosinophilia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 285 22
C0014518 Toxic Epidermal Necrolysis disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 112 17
C0014800 Erythroid hyperplasia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of blood and blood-forming tissues 16 3
C0014804 Erythromelalgia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 14 5
C0017925 Glycogen Storage Disease Type VI disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 15 3
C0018939 Hematological Disease group Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 245 16
C0019154 Hepatic Vein Thrombosis disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 21 4
C0019829 Hodgkin Disease disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 829 70
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1973 871