Source: BEFREE

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 2694 1598
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 2650 714
C0011847 Diabetes disease Endocrine System Diseases Disease or Syndrome disease of metabolism 2314 611
C0023418 leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1984 138
C1332977 Childhood Leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1740 140
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1599 448
C0023449 Acute lymphocytic leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1289 211
C0023890 Liver Cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 1099 171
C0023452 Childhood Acute Lymphoblastic Leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1086 259
C0400966 Non-alcoholic Fatty Liver Disease disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 1016 189
C0751606 Adult Acute Lymphocytic Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 860 154
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 815 110
C0007570 Celiac Disease disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 421 76
C0392514 Hereditary hemochromatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 252 44
C0282193 Iron Overload disease Nutritional and Metabolic Diseases Disease or Syndrome 235 53
C0022408 Arthropathy group Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 172 10
C0009447 Common Variable Immunodeficiency disease Immune System Diseases Disease or Syndrome disease of anatomical entity 162 10
C0020541 Portal Hypertension disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the cardiovascular system 97 8
C2936664 Acquired Hypogammaglobulinemia disease Immune System Diseases Disease or Syndrome disease of anatomical entity 87 4
C0018995 Hemochromatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 85 45
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 52
C0276623 Chronic viral hepatitis disease Digestive System Diseases Disease or Syndrome 59 8
C0162539 IgG Deficiency disorder disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 8 2