Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1432 769
C0155626 Acute myocardial infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 765 118
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 685 93
C0041834 Erythema phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument; Abnormality of the cardiovascular system 130 4
C0031069 Familial Mediterranean Fever disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 129 41
C0085253 Adult-Onset Still Disease disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 73 5
C2939461 Myeloid neoplasm disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 62 5
C0221014 Reactive systemic amyloidosis disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 41 11
C3536715 AA amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome 38 10
C0281479 Primary Systemic Amyloidosis disease Neoplasms; Nutritional and Metabolic Diseases; Immune System Diseases Neoplastic Process 27 10
C3890737 Autoinflammatory Syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 25 7
C0268380 Systemic amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome 21 10
C0015974 Periodic fever disease Disease or Syndrome 19 5
C0014733 Erysipelas disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 8 2