Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C3854222 Human immunodeficiency virus (HIV) II infection category B1 disease Disease or Syndrome 985 56
C4048329 Immunosuppression disease Disease or Syndrome 632 9
C0677932 Progressive Neoplastic Disease phenotype Neoplastic Process 384 40
C3539781 Progressive cGVHD disease Disease or Syndrome 384 40
C1868683 B-CELL MALIGNANCY, LOW-GRADE disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 350 19
C0009812 Constitutional Symptom phenotype Sign or Symptom Constitutional symptom 30 1
C1709781 Pyothorax-Associated Lymphoma disease Neoplastic Process 26 0
C1955690 Extranodal marginal zone B-cell lymphoma disease Neoplastic Process 23 0
C1336753 Thyroid Lymphoma disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 20 0
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47
C0162565 Acute intermittent porphyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism 103 68
C0010278 Craniosynostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck; Abnormality of the skeletal system 488 90
C1837249 Malformations of Cortical Development, Group II disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 180 101
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 384 698
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 294 116
C0009324 Ulcerative Colitis disease Digestive System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 1458 827
C4302455 Pancreatitis due to pancreatic duct obstruction disease Digestive System Diseases Disease or Syndrome 10 0
C1850900 Familial primary gastric lymphoma disease Digestive System Diseases; Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 121 2
C0029182 orbit (eye disorders) group Eye Diseases Disease or Syndrome disease of anatomical entity 64 0
C0018213 Graves Disease disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 585 352
C0151449 Primary Sjögren's syndrome disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 312 42
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0497156 Lymphadenopathy phenotype Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the cardiovascular system 277 5
C0024282 Lymphocytosis disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of blood and blood-forming tissues 78 1