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 0.730 None 0.833 6 3 1998 2012
CUI: C1855781
Disease: Cutaneous anergy
Cutaneous anergy
phenotype Finding 6 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: C1963279
Disease: Viral Hepatitis, CTCAE 3
Viral Hepatitis, CTCAE 3
phenotype Finding 4 0.100 None 0
Recurrent Staphylococcus aureus infections
phenotype Finding 11 1 0.100 None 0
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 338 35 0.100 None 0
CUI: C0393441
Disease: Chronic lymphocytic meningitis
Chronic lymphocytic meningitis
disease Nervous System Diseases Disease or Syndrome 4 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
CUI: C0271429
Disease: Acute otitis media
Acute otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 24 1 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: C0262655
Disease: Recurrent urinary tract infection
Recurrent urinary tract infection
disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 237 21 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE
phenotype Finding 175 0.100 None 0
CUI: C1860128
Disease: Recurrent candida infections
Recurrent candida infections
phenotype Finding 12 1 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy
phenotype Finding 19 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
Bare Lymphocyte Syndrome, Type II, Complementation Group B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 1 1 0.100 None 0 1
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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 0.100 None 0