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: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 253 15 0.100 None 0
CUI: C1855781
Disease: Cutaneous anergy
Cutaneous anergy
phenotype Finding 6 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: C1963279
Disease: Viral Hepatitis, CTCAE 3
Viral Hepatitis, CTCAE 3
phenotype Finding 4 0.100 None 0
CUI: C0042721
Disease: Viral hepatitis
Viral hepatitis
group Digestive System Diseases; Infections Disease or Syndrome 79 5 0.100 None 0
Recurrent Staphylococcus aureus infections
phenotype Finding 11 1 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: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
group Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 239 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy
phenotype Finding 19 0.100 None 0
Recurrent lower respiratory tract infection
phenotype Disease or Syndrome 23 0.100 None 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.100 None 0
Recurrent infection of the gastrointestinal tract
phenotype Finding 16 0.100 None 0
CUI: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 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: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia
phenotype Finding 20 2 0.100 None 0
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.100 None 0
Abnormality of blood and blood-forming tissues
disease Finding 23 1 0.100 None 0
CUI: C0035455
Disease: Rhinitis
Rhinitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 178 20 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
CUI: C0037199
Disease: Sinusitis
Sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 97 0.100 None 0
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection
phenotype Infections Finding 32 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: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection
phenotype Infections Finding 69 0.100 None 0
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections
phenotype Finding 20 2 0.100 None 0