Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0334070 Maturation defect phenotype Acquired Abnormality 43 2
C1285498 Vegetation disease Anatomical Abnormality 67 0
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 756 47
C0220766 Congenital hypoplasia of adrenal gland disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality Abnormality of the endocrine system 45 13
C0012241 Congenital anomaly of gastrointestinal tract group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Congenital Abnormality 2 0
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
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1973 871
C0019196 Hepatitis C disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 1736 316
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1582 547
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1551 382
C0033860 Psoriasis disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 1105 238
C0948008 Ischemic stroke disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 1104 586
C0002736 Amyotrophic Lateral Sclerosis disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 1069 411
C0024530 Malaria disease Infections Disease or Syndrome disease by infectious agent 658 90
C0024115 Lung diseases group Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 630 50
C0007959 Charcot-Marie-Tooth Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 196 95
C0030312 Pancytopenia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 182 6
C0271183 Severe myopia disease Eye Diseases Disease or Syndrome Abnormality of the eye 142 100
C1275685 Avellino corneal dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 114 14
C0002986 Fabry Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the integument; Abnormality of the cardiovascular system 104 41
C0002873 Anemia of chronic disease phenotype Hemic and Lymphatic Diseases Disease or Syndrome 100 1
C0017605 Angle Closure Glaucoma disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 92 56
C0017606 Primary angle-closure glaucoma disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 85 55
C4554601 Amyloidosis cutis dyschromia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 84 1