Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545 1440
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486 1243
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 483 1142
C1868683 B-CELL MALIGNANCY, LOW-GRADE disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 350 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 8 3
C0740992 anemia hemoglobin disease Disease or Syndrome 6 1
C2675105 BUDD-CHIARI SYNDROME, SUSCEPTIBILITY TO, SOMATIC phenotype Finding 1 1
C3281125 THROMBOCYTHEMIA 3 disease Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 1 1
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2322 1085
C0010054 Coronary Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1282 440
C0151744 Myocardial Ischemia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 756 103
C1861172 Venous Thromboembolism phenotype Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 378 408
C1704436 Peripheral Arterial Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 319 128
C0149871 Deep Vein Thrombosis disease Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 230 93
C0085096 Peripheral Vascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 150 18
C0155773 Portal Vein Thrombosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 59 8
C4022560 Splanchnic vein thrombosis disease Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 15 2
C0014804 Erythromelalgia disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 14 5