Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3150354
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2
IMMUNODEFICIENCY, COMMON VARIABLE, 2 		disease Disease or Syndrome 1 9 0.600 None 1.000 20 9 2005 2017
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 3 0.700 limited 1.000 3 3 2005 2017
CUI: C0036836
Disease: Serum total protein measurement
Serum total protein measurement 		phenotype Laboratory Procedure 4 6 0.100 None 1.000 1 1 2012 2012
CUI: C0272238
Disease: Transient hypogammaglobulinemia of infancy
Transient hypogammaglobulinemia of infancy 		disease Immune System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2011 2011
CUI: C2936665
Disease: Immunoglobulin Deficiency, Late-Onset
Immunoglobulin Deficiency, Late-Onset 		disease Immune System Diseases Disease or Syndrome 11 0.300 None 0
CUI: C4014733
Disease: Follicular hyperplasia
Follicular hyperplasia 		phenotype Hemic and Lymphatic Diseases Finding 11 0.100 None 0
CUI: C1848389
Disease: Posterior pharyngeal cleft
Posterior pharyngeal cleft 		phenotype Finding 12 0.100 None 0
CUI: C0272126
Disease: Evans syndrome
Evans syndrome 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 13 0.010 None 1.000 1 2019 2019
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		phenotype Finding 13 0.100 None 0
CUI: C0030489
Disease: Paraproteinemias
Paraproteinemias 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 14 9 0.100 None 1.000 1 1 2019 2019
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections 		phenotype Finding 16 0.100 None 0
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		phenotype Finding 16 0.100 None 0
CUI: C4082764
Disease: Gastrointestinal infection
Gastrointestinal infection 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome 17 0.010 None 1.000 1 2012 2012
CUI: C1860127
Disease: Impaired T cell function
Impaired T cell function 		phenotype Cell or Molecular Dysfunction 18 0.100 None 0
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		disease Immune System Diseases Disease or Syndrome 21 0.040 None 1.000 4 2008 2016
CUI: C0855139
Disease: Monocytoid B-cell lymphoma
Monocytoid B-cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 24 1 0.010 None 1.000 1 2012 2012
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder 		group Disease or Syndrome 26 1 0.010 None 1.000 1 2018 2018
CUI: C0522274
Disease: Humoral immune defect
Humoral immune defect 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.010 None 1.000 1 2019 2019
CUI: C0741796
Disease: Recurrent bronchitis
Recurrent bronchitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 29 1 0.100 None 0
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 88 0.010 None 1.000 1 2019 2019
CUI: C0085436
Disease: Meningitis, Cryptococcal
Meningitis, Cryptococcal 		disease Infections; Nervous System Diseases Disease or Syndrome 31 3 0.010 None 1.000 1 2010 2010
CUI: C0333559
Disease: Infarction, Lacunar
Infarction, Lacunar 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 36 18 0.010 None 1.000 1 2006 2006
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 37 253 0.010 None 1.000 1 2018 2018
CUI: C0581354
Disease: Recurrent sinusitis
Recurrent sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 41 3 0.100 None 0
CUI: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		disease Disease or Syndrome 45 23 0.320 limited 1.000 3 2009 2017