Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0038354 Stomach Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity 70 3
C4725671 High-Risk Neuroblastoma disease Neoplasms Neoplastic Process 99 4
C0029134 Optic Neuritis disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the eye 79 4
C0003164 Anthracosilicosis disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome disease of anatomical entity 5 4
C0343640 African Burkitt's lymphoma disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 36 5
C0342953 Organ dysfunction syndrome disease Disease or Syndrome 17 6
C0004610 Bacteremia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of metabolism/homeostasis 233 7
C0079102 Cerebral Thrombosis disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 15 7
C0221505 Lesion of brain group Disease or Syndrome 188 9
C1135196 Heart Failure, Diastolic disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 55 9
C0795687 Cerebral arterial thrombosis disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 14 9
C0042166 Uveitis, Intermediate disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the eye 10 10
C0151945 Thrombosis of cerebral veins disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 35 11
C0042029 Urinary tract infection group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 219 14
C0242852 Proliferative vitreoretinopathy disease Eye Diseases Disease or Syndrome disease of anatomical entity 142 14
C0040264 Tinnitus phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 103 14
C1302547 Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 42 14
C1456868 Diabetic foot ulcer disease Skin and Connective Tissue Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 107 17
C0595995 Idiopathic scoliosis disease Musculoskeletal Diseases Acquired Abnormality disease of anatomical entity 46 17
C1333064 Classical Hodgkin's Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 285 20
C0003857 Congenital arteriovenous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 163 23
C0018133 Graft-vs-Host Disease disease Immune System Diseases Disease or Syndrome 447 25
C4082937 Necrotizing enterocolitis in fetus OR newborn disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 210 26
C0220597 Adult Hodgkin Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 399 27
C0020474 Hyperlipidemia, Familial Combined disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 91 28