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: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		disease Disease or Syndrome 1 20 0.700 None 1.000 21 20 2011 2019
CUI: C4013950
Disease: IMMUNODEFICIENCY 31A
IMMUNODEFICIENCY 31A 		disease Disease or Syndrome 1 12 0.700 None 1.000 21 12 2001 2019
CUI: C0028425
Disease: Crusted scabies
Crusted scabies 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C4025265
Disease: Medial calcification of large arteries
Medial calcification of large arteries 		phenotype Pathologic Function 2 1 0.100 None 0
CUI: C4072899
Disease: Abnormal serum interferon-gamma level
Abnormal serum interferon-gamma level 		phenotype Finding 2 0.100 None 0
CUI: C0007933
Disease: Meibomian Cyst
Meibomian Cyst 		disease Neoplasms; Eye Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 2020 2020
CUI: C0276667
Disease: Disseminated coccidioidomycosis
Disseminated coccidioidomycosis 		disease Infections Disease or Syndrome 3 0.010 None 1.000 1 2013 2013
CUI: C0489980
Disease: Disseminated due to other mycobacteria
Disseminated due to other mycobacteria 		disease Infections Disease or Syndrome 3 0.010 None 1.000 1 2012 2012
CUI: C3806583
Disease: Functional abnormality of the bladder
Functional abnormality of the bladder 		phenotype Finding 3 0.100 None 0
CUI: C0024225
Disease: Lymphangitis
Lymphangitis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B 		disease Disease or Syndrome 5 16 0.700 None 1.000 24 11 2003 2019
CUI: C4316913
Disease: Autoimmune Polyglandular Syndrome
Autoimmune Polyglandular Syndrome 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C4021752
Disease: Recurrent Aspergillus infections
Recurrent Aspergillus infections 		phenotype Finding 5 0.100 None 0
CUI: C4025208
Disease: Severe T-cell immunodeficiency
Severe T-cell immunodeficiency 		disease Disease or Syndrome 5 2 0.100 None 0 1
CUI: C0392666
Disease: Infestation by Demodex
Infestation by Demodex 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 6 0.010 None 1.000 1 2020 2020
CUI: C0152915
Disease: Acute miliary tuberculosis
Acute miliary tuberculosis 		disease Infections Disease or Syndrome 8 0.010 None 1.000 1 2004 2004
CUI: C0858009
Disease: Mumps virus infection
Mumps virus infection 		disease Disease or Syndrome 8 0.010 None 1.000 1 2003 2003
CUI: C4024599
Disease: Chronic oral candidiasis
Chronic oral candidiasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 8 2 0.100 None 0 2
CUI: C4054044
Disease: Secondary haemophagocytic lymphohistiocytosis
Secondary haemophagocytic lymphohistiocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C4023438
Disease: Recurrent mycobacterial infections
Recurrent mycobacterial infections 		phenotype Finding 9 0.100 None 0
CUI: C1411980
Disease: Mycobacterium avium infection
Mycobacterium avium infection 		disease Disease or Syndrome 10 0.010 None 1.000 1 2017 2017
CUI: C4755296
Disease: Susceptibility to viral and mycobacterial infection
Susceptibility to viral and mycobacterial infection 		disease Disease or Syndrome 11 3 0.080 None 1.000 8 2 2006 2017
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 17 0.030 None 1.000 3 1997 2018
CUI: C1844666
Disease: Immune dysregulation
Immune dysregulation 		phenotype Finding 11 1 0.100 None 0
CUI: C2673462
Disease: Recurrent Staphylococcus aureus infections
Recurrent Staphylococcus aureus infections 		phenotype Finding 11 1 0.100 None 0 1