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: C4049006
Disease: Selective immunoglobulin A deficiency
Selective immunoglobulin A deficiency 		disease Disease or Syndrome 45 23 0.320 limited 1.000 3 2009 2017
CUI: C0202202
Disease: Protein measurement
Protein measurement 		group Laboratory Procedure 75 422 0.100 None 1.000 2 2 2010 2012
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 2 11 2012 2018
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
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: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2016 2016
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		phenotype Laboratory Procedure 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		phenotype Laboratory Procedure 53 69 0.100 None 1.000 1 1 2018 2018
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2013 2013
CUI: C0740451
Disease: Granulomatous disorder
Granulomatous disorder 		group Disease or Syndrome 26 1 0.010 None 1.000 1 2018 2018
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		phenotype Laboratory or Test Result 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1 2017 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2019 2019
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		phenotype Finding 13 0.100 None 0
CUI: C1846546
Disease: Recurrent sinopulmonary infections
Recurrent sinopulmonary infections 		phenotype Finding 16 0.100 None 0
CUI: C1848389
Disease: Posterior pharyngeal cleft
Posterior pharyngeal cleft 		phenotype Finding 12 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 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: C1860127
Disease: Impaired T cell function
Impaired T cell function 		phenotype Cell or Molecular Dysfunction 18 0.100 None 0
CUI: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		phenotype Finding 97 12 0.100 None 0
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		phenotype Finding 61 8 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		phenotype Finding 75 5 0.100 None 0