Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0019693 HIV Infections group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 807 142
C0041327 Tuberculosis, Pulmonary disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 358 171
C0282193 Iron Overload disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53
C1535939 Pneumocystis jiroveci pneumonia disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity; disease by infectious agent 180 5
C0018995 Hemochromatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 93 45
C0029118 Opportunistic Infections group Infections Disease or Syndrome Abnormality of the immune system 90 7
C3469186 HEMOCHROMATOSIS, TYPE 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 83 62
C1512508 Human herpesvirus 8 infection disease Infections; Immune System Diseases Disease or Syndrome 19 2