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: C1859537
Disease: Bare Lymphocyte Syndrome, Type II, Complementation Group D
Bare Lymphocyte Syndrome, Type II, Complementation Group D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 1 2 0.400 strong 1.000 1 2 1998 1998
CUI: C0393441
Disease: Chronic lymphocytic meningitis
Chronic lymphocytic meningitis 		disease Nervous System Diseases Disease or Syndrome 4 0.100 None 0
CUI: C1963279
Disease: Viral Hepatitis, CTCAE 3
Viral Hepatitis, CTCAE 3 		phenotype Finding 4 0.100 None 0
CUI: C4025202
Disease: Recurrent protozoan infections
Recurrent protozoan infections 		phenotype Finding 4 0.100 None 0
CUI: C4476717
Disease: Decreased circulating beta-2-microglobulin level
Decreased circulating beta-2-microglobulin level 		phenotype Finding 4 0.100 None 0
CUI: C4531158
Disease: Reduced MHC II surface expression
Reduced MHC II surface expression 		phenotype Cell or Molecular Dysfunction 4 0.100 None 0
CUI: C3808820
Disease: Chronic hepatitis due to cryptosporidium infection
Chronic hepatitis due to cryptosporidium infection 		disease Digestive System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C4531154
Disease: Abnormal CD4:CD8 ratio
Abnormal CD4:CD8 ratio 		phenotype Finding 5 0.100 None 0
CUI: C1855781
Disease: Cutaneous anergy
Cutaneous anergy 		phenotype Finding 6 0.100 None 0
CUI: C1849426
Disease: Lack of T cell function
Lack of T cell function 		phenotype Finding 7 0.100 None 0
CUI: C2673462
Disease: Recurrent Staphylococcus aureus infections
Recurrent Staphylococcus aureus infections 		phenotype Finding 11 1 0.100 None 0
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections 		phenotype Finding 12 1 0.100 None 0
CUI: C4531166
Disease: Decreased lymphocyte proliferation in response to mitogen
Decreased lymphocyte proliferation in response to mitogen 		phenotype Cell or Molecular Dysfunction 13 0.100 None 0
CUI: C0473133
Disease: Protracted diarrhea
Protracted diarrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 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: C0267456
Disease: Villous atrophy of intestine
Villous atrophy of intestine 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		phenotype Finding 19 0.100 None 0
CUI: C1839304
Disease: Decreased proportion of CD4-positive T cells
Decreased proportion of CD4-positive T cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 19 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 20 2 0.100 None 0
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		phenotype Finding 20 2 0.100 None 0
CUI: C3163798
Disease: Recurrent lower respiratory tract infection
Recurrent lower respiratory tract infection 		phenotype Disease or Syndrome 23 0.100 None 0
CUI: C0242583
Disease: Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 24 0.020 None 1.000 2 2006 2012
CUI: C0271429
Disease: Acute otitis media
Acute otitis media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 24 1 0.100 None 0
CUI: C2931418
Disease: Bare lymphocyte syndrome 2
Bare lymphocyte syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 27 6 0.640 None 0.500 4 1 2000 2012
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 31 3 0.100 None 0