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: 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
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: C1855781
Disease: Cutaneous anergy
Cutaneous anergy
phenotype Finding 6 0.100 None 0
Recurrent infection of the gastrointestinal tract
phenotype Finding 16 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: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections
phenotype Finding 20 2 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection
phenotype Infections Finding 69 0.100 None 0
Decreased proportion of CD4-positive T cells
phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 19 0.100 None 0
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection
phenotype Infections Finding 32 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia
phenotype Finding 20 2 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
Recurrent upper respiratory tract infection
disease Infections; Respiratory Tract Diseases Disease or Syndrome 52 3 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy
phenotype Finding 19 0.100 None 0
Decreased lymphocyte proliferation in response to mitogen
phenotype Cell or Molecular Dysfunction 13 0.100 None 0
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections
phenotype Finding 12 1 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
phenotype Finding 175 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: C4531154
Disease: Abnormal CD4:CD8 ratio
Abnormal CD4:CD8 ratio
phenotype Finding 5 0.100 None 0
Decreased circulating beta-2-microglobulin level
phenotype Finding 4 0.100 None 0
CUI: C4025202
Disease: Recurrent protozoan infections
Recurrent protozoan infections
phenotype Finding 4 0.100 None 0
Chronic hepatitis due to cryptosporidium infection
disease Digestive System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections
phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C3714745
Disease: Malabsorption
Malabsorption
phenotype Digestive System Diseases Finding 175 3 0.100 None 0
Recurrent lower respiratory tract infection
phenotype Disease or Syndrome 23 0.100 None 0
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media
disease Otorhinolaryngologic Diseases Disease or Syndrome 146 6 0.100 None 0