Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C1868683 B-CELL MALIGNANCY, LOW-GRADE disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 346 19
C2347748 Adult Erythroleukemia disease Neoplastic Process 236 4
C1378511 Undifferentiated leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 120 2
C2827469 Coronary Microvascular Disease disease Disease or Syndrome 45 3
C0009812 Constitutional Symptom phenotype Sign or Symptom Constitutional symptom 30 1
C0242006 Myelofibrosis due to another disorder disease Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 23 6
C4755296 Susceptibility to viral and mycobacterial infection disease Disease or Syndrome 11 3
C1333046 Myeloproliferative Neoplasm, Unclassifiable disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 7 3
C0740992 anemia hemoglobin disease Disease or Syndrome 6 1
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1973 871
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1262 440
C0151744 Myocardial Ischemia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 585 103
C1704436 Peripheral Arterial Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 279 54
C1861172 Venous Thromboembolism phenotype Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 270 106
C0149871 Deep Vein Thrombosis disease Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 217 76
C0085096 Peripheral Vascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 144 17
C0155773 Portal Vein Thrombosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 56 8
C0014804 Erythromelalgia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 14 5
C4022560 Splanchnic vein thrombosis disease Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 8 2
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47
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
C0022735 Klinefelter Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease 148 18
C0432474 Klinefelter's syndrome - male with more than two X chromosomes disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5
C0584960 Factor V Leiden mutation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 46