Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 681 1322
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 610 1144
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 338 456
C0200641 Blood basophil count (lab test) phenotype Laboratory Procedure 272 452
C0200633 Neutrophil count (procedure) phenotype Laboratory Procedure 145 234
C3840565 Autoimmune thyroid disease (AITD) disease Disease or Syndrome 133 54
C0857490 Granulocyte count phenotype Laboratory Procedure 100 150
C4310768 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 disease Disease or Syndrome 82 132
C3150797 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 disease Finding 82 141
C4014795 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 disease Disease or Syndrome 82 142
C1321756 Achalasia disease Disease or Syndrome disease of anatomical entity 40 5
C1272321 Autoantibody measurement phenotype Laboratory Procedure 27 52
C3277701 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 disease Finding disease of anatomical entity 1 1
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2044 281
C0003850 Arteriosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2006 267
C0018799 Heart Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 537 45
C0042384 Vasculitis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 294 24
C0010674 Cystic Fibrosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 852 704
C1862382 SVEINSSON CHORIORETINAL ATROPHY disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity 139 30
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 502 243
C0041408 Turner Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 162 21
C0265514 Dermatofibrosis lenticularis disseminata disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 11 3
C0021390 Inflammatory Bowel Diseases group Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 1577 605
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