CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 510
C3714514 Infection group Infections Pathologic Function 489
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 469
C0003130 Anoxia phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 258
C0017636 Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 210
C0014170 Endometrial Neoplasms group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 172
C0001430 Adenoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 162
C1961102 Precursor Cell Lymphoblastic Leukemia Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 145
C0020507 Hyperplasia phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 103
C0023267 Fibroid Tumor disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 74
C0019348 Herpes Simplex Infections group Infections; Skin and Connective Tissue Diseases Disease or Syndrome disease by infectious agent 49
C1800706 Idiopathic Pulmonary Fibrosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 37
C0005283 beta Thalassemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 24
C0206695 Carcinoma, Neuroendocrine disease Neoplasms Neoplastic Process disease of cellular proliferation 20
C0026277 Mixed Salivary Gland Tumor disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 19
C0004135 Ataxia Telangiectasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 18
C0206687 Carcinoma, Endometrioid disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 18
C0265965 Dyskeratosis Congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 6
C0950124 Disease due to Papilloma virus group Infections Disease or Syndrome 6
C0039292 Tangier Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 4
C0010314 Cri-du-Chat Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease 1
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 39
C0002874 Aplastic Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 33
C0027430 Nasal Polyps disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of head or neck 33
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 214