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: C1835828
Disease: Invasive Pneumococcal Disease, Recurrent Isolated, 1
Invasive Pneumococcal Disease, Recurrent Isolated, 1 		disease Infections; Immune System Diseases Disease or Syndrome 2 2 0.500 strong 1.000 1 2 2007 2007
CUI: C4024862
Disease: Recurrent staphylococcal infections
Recurrent staphylococcal infections 		phenotype Finding 2 0.100 None 0
CUI: C2169794
Disease: Recurrent streptococcus pneumoniae infections
Recurrent streptococcus pneumoniae infections 		phenotype Finding 4 0.100 None 0
CUI: C1843256
Disease: IRAK4 Deficiency
IRAK4 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 5 9 0.610 None 1.000 7 9 2003 2014
CUI: C0752305
Disease: Anoxic-Ischemic Encephalopathy
Anoxic-Ischemic Encephalopathy 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2011 2011
CUI: C0752306
Disease: Anoxia-Ischemia, Brain
Anoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2011 2011
CUI: C0752307
Disease: Anoxia-Ischemia, Cerebral
Anoxia-Ischemia, Cerebral 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.300 None 1.000 1 2011 2011
CUI: C4285937
Disease: Invasive bacterial infection
Invasive bacterial infection 		disease Disease or Syndrome 7 0.010 None 1.000 1 2008 2008
CUI: C0024959
Disease: Maxillary Sinusitis
Maxillary Sinusitis 		disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 10 0.010 None 1.000 1 2015 2015
CUI: C0040560
Disease: Toxoplasmosis, Congenital
Toxoplasmosis, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 12 6 0.010 None 1.000 1 2 2012 2012
CUI: C0178540
Disease: Cerebral Hypoxia-Ischemia
Cerebral Hypoxia-Ischemia 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 13 0.300 None 1.000 1 2011 2011
CUI: C0085426
Disease: Gram-Positive Bacterial Infections
Gram-Positive Bacterial Infections 		group Infections Disease or Syndrome 17 1 0.010 None 1.000 1 2008 2008
CUI: C2677092
Disease: MYD88 Deficiency
MYD88 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 19 4 0.020 None 1.000 2 2010 2014
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 34 10 0.010 None 1.000 1 2008 2008
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
Cryopyrin-Associated Periodic Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 39 12 0.010 None 1.000 1 2010 2010
CUI: C0276226
Disease: Herpes encephalitis
Herpes encephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 42 1 0.010 None 1.000 1 2010 2010
CUI: C1320214
Disease: Invasive Streptococcus pneumoniae disease
Invasive Streptococcus pneumoniae disease 		disease Infections Disease or Syndrome 55 9 0.030 None 0.667 3 2007 2015
CUI: C0242380
Disease: Libman-Sacks Disease
Libman-Sacks Disease 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 59 0.300 None 1.000 1 2017 2017
CUI: C0037278
Disease: Skin Diseases, Infectious
Skin Diseases, Infectious 		group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 74 0.010 None < 0.001 1 2018 2018
CUI: C0752308
Disease: Hypoxia-Ischemia, Brain
Hypoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 81 0.300 None 1.000 1 2011 2011
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		disease Disease or Syndrome 81 10 0.010 None 1.000 1 2010 2010
CUI: C0032269
Disease: Pneumococcal Infections
Pneumococcal Infections 		group Infections Disease or Syndrome 85 1 0.010 None 1.000 1 2013 2013
CUI: C0025295
Disease: Meningitis, Pneumococcal
Meningitis, Pneumococcal 		disease Infections; Nervous System Diseases Disease or Syndrome 88 13 0.020 None 1.000 2 2004 2016
CUI: C4020969
Disease: Inflammatory abnormality of the eye
Inflammatory abnormality of the eye 		disease Disease or Syndrome 88 1 0.010 None 1.000 1 2018 2018
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 92 6 0.010 None 1.000 1 2018 2018