CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 216 14
C0267797 Acute hepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the immune system 55 2
C0275518 Acute infectious disease group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 198 5
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
C0001339 Acute pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 426 51
C0276609 Acute type B viral hepatitis disease Digestive System Diseases; Infections Disease or Syndrome 38 0
C1319315 Adenocarcinoma of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 300 12
C0206686 Adrenocortical carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 264 14
C0162309 Adrenoleukodystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 289 31
C0751606 Adult Acute Lymphocytic Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 860 154
C0280483 Adult Anaplastic Astrocytoma disease Neoplasms Neoplastic Process 90 8
C0278595 Adult Fibrosarcoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 387 9
C0278878 Adult Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2527 98
C0220630 Adult Liver Carcinoma disease Digestive System Diseases; Neoplasms Neoplastic Process 1377 72
C0278876 Adult Medulloblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 747 24
C0278877 Adult Meningioma disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30
C0023493 Adult T-Cell Lymphoma/Leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 521 11
C0221056 Adult type dermatomyositis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 218 31
C4727838 Advanced Melanoma disease Neoplastic Process 73 5
C0175754 Agenesis of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 427 12
C0393591 AICARDI-GOUTIERES SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease 116 8
C2607914 Allergic rhinitis (disorder) disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck 394 96
C1845055 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 42 10
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3131 968
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 685 93