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: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		disease Disease or Syndrome 133 54 0.040 None 1.000 4 1 2006 2010
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 2 1 2016 2019
CUI: C1321756
Disease: Achalasia
Achalasia 		disease Disease or Syndrome 40 5 0.020 None 1.000 2 1 2007 2011
CUI: C1692871
Disease: Inflammatory polyarthritis
Inflammatory polyarthritis 		disease Disease or Syndrome 13 1 0.020 None 1.000 2 2008 2008
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		phenotype Laboratory Procedure 145 234 0.100 None 1.000 1 1 2016 2016
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2016 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2016 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2010 2010
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		phenotype Laboratory Procedure 100 150 0.100 None 1.000 1 1 2016 2016
CUI: C0948379
Disease: Impaired insulin secretion
Impaired insulin secretion 		disease Disease or Syndrome 88 14 0.010 None 1.000 1 2018 2018
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		phenotype Laboratory Procedure 27 52 0.100 None 1.000 1 1 2011 2011
CUI: C1387164
Disease: allergic rhinitis with asthma
allergic rhinitis with asthma 		disease Disease or Syndrome 6 6 0.010 None 1.000 1 2016 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1 2006 2006
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		disease Finding 82 141 0.100 None 1.000 1 1 2019 2019
CUI: C3277701
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 		disease Finding 1 1 0.300 None 1.000 1 1 2005 2005
CUI: C3826457
Disease: Diabetes in children
Diabetes in children 		disease Disease or Syndrome 22 2 0.010 None 1.000 1 2018 2018
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		disease Disease or Syndrome 82 142 0.100 None 1.000 1 1 2019 2019
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2012 2012
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		disease Disease or Syndrome 82 132 0.100 None 1.000 1 1 2019 2019
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C0151632
Disease: ESR raised
ESR raised 		phenotype Finding 36 0.100 None 0
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing 		phenotype Finding 14 0.100 None 0
CUI: C0263498
Disease: Premature canities
Premature canities 		phenotype Finding 33 4 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0