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: C0748483
Disease: Salmonella bacteraemia
Salmonella bacteraemia 		disease Infections Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C2677096
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11 		disease Finding 1 1 0.400 limited 0 1
CUI: C0600123
Disease: Acute hematogenous osteomyelitis
Acute hematogenous osteomyelitis 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C4706572
Disease: Invasive non-typhoidal salmonellosis
Invasive non-typhoidal salmonellosis 		disease Infections Disease or Syndrome 3 2 0.100 None 1.000 1 1 2018 2018
CUI: C3826634
Disease: Bronchitis in children
Bronchitis in children 		disease Disease or Syndrome 4 0.010 None 1.000 1 2016 2016
CUI: C1142517
Disease: Lupus anticoagulant measurement
Lupus anticoagulant measurement 		phenotype Laboratory Procedure 5 0.100 None 0
CUI: C4073169
Disease: Decreased serum complement C4
Decreased serum complement C4 		phenotype Finding 5 0.100 None 0
CUI: C4321325
Disease: Lupus anticoagulant -- finding
Lupus anticoagulant -- finding 		phenotype Finding 5 0.100 None 0
CUI: C0426396
Disease: Urine looks dark
Urine looks dark 		phenotype Finding 6 0.100 None 0
CUI: C0026919
Disease: Mycobacterium Infections, Nontuberculous
Mycobacterium Infections, Nontuberculous 		group Infections Disease or Syndrome 7 0.010 None 1.000 1 2004 2004
CUI: C0729555
Disease: Infection of digestive system
Infection of digestive system 		group Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C1411980
Disease: Mycobacterium avium infection
Mycobacterium avium infection 		disease Disease or Syndrome 10 0.010 None 1.000 1 2004 2004
CUI: C1535942
Disease: Polyglandular Type III Autoimmune Syndrome
Polyglandular Type III Autoimmune Syndrome 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2015 2015
CUI: C1837512
Disease: Decreased serum complement C3
Decreased serum complement C3 		phenotype Finding 12 0.100 None 0
CUI: C0277942
Disease: Butterfly rash
Butterfly rash 		phenotype Skin and Connective Tissue Diseases Finding 13 0.100 None 0
CUI: C0085860
Disease: Autoimmune Syndrome Type II, Polyglandular
Autoimmune Syndrome Type II, Polyglandular 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 14 0.010 None < 0.001 1 2012 2012
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
Abnormality of the gastrointestinal tract 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 14 1 0.100 None 0
CUI: C1858981
Disease: Antineutrophil antibody positivity
Antineutrophil antibody positivity 		phenotype Laboratory or Test Result 15 0.100 None 0
CUI: C1719788
Disease: Episodic ataxia type 1
Episodic ataxia type 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 16 15 0.010 None 1.000 1 2019 2019
CUI: C0022073
Disease: Iridocyclitis
Iridocyclitis 		disease Eye Diseases Disease or Syndrome 16 0.100 None 0
CUI: C0237653
Disease: Immunologic hypersensitivity
Immunologic hypersensitivity 		phenotype Pathologic Function 16 0.100 None 0
CUI: C0748540
Disease: Scleroderma, Limited
Scleroderma, Limited 		disease Skin and Connective Tissue Diseases Disease or Syndrome 17 10 0.100 None 1.000 1 2 2018 2018
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 2019 2019
CUI: C0085582
Disease: Retrobulbar Neuritis
Retrobulbar Neuritis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 18 0.100 None 0
CUI: C4019436
Disease: Antiphospholipid antibody positivity
Antiphospholipid antibody positivity 		phenotype Finding 18 0.100 None 0