Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2347126 Microscopic Polyarteritis disease Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 77 7
C0034155 Purpura, Thrombotic Thrombocytopenic disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 80 13
C4014795 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 disease Disease or Syndrome 82 142
C3150797 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 disease Finding 82 141
C4310768 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 disease Disease or Syndrome 82 132
C3899278 Early Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 83 5
C2717865 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 86 3
C0701807 Acute anterior uveitis disease Eye Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the eye 90 30
C0006309 Brucellosis disease Infections Disease or Syndrome disease by infectious agent 92 30
C0857490 Granulocyte count phenotype Laboratory Procedure 100 150
C0035439 Rheumatic Heart Disease disease Infections; Cardiovascular Diseases Disease or Syndrome 102 33
C0270549 Generalized Anxiety Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 103 24
C0751356 Idiopathic Inflammatory Myopathies disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 106 4
C0178468 Autoimmune thyroid disease disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 107 15
C0007117 Basal cell carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 108 109
C0001403 Addison Disease disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 111 13
C0002171 Alopecia Areata disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 114 54
C0030809 Pemphigus Vulgaris disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 115 39
C0022638 Ketosis disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 119 11
C3495801 Granulomatosis with polyangiitis disease Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 126 18
C3840565 Autoimmune thyroid disease (AITD) disease Disease or Syndrome 133 54
C0039263 Takayasu Arteritis disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome syndrome 136 55
C1862382 SVEINSSON CHORIORETINAL ATROPHY disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity 139 30
C0200633 Neutrophil count (procedure) phenotype Laboratory Procedure 145 234
C0920350 Autoimmune thyroiditis disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 161 76