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: 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: C0271429
Disease: Acute otitis media
Acute otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 24 1 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: 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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 271 106 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: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system
disease Pathologic Function 34 3 0.100 None 0
CUI: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 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
CUI: C0037199
Disease: Sinusitis
Sinusitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 97 0.100 None 0
CUI: C0554101
Disease: Villous atrophy
Villous atrophy
phenotype Finding 19 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
Recurrent upper respiratory tract infection
disease Infections; Respiratory Tract Diseases Disease or Syndrome 52 3 0.100 None 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection
phenotype Infections Finding 69 0.100 None 0
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 43 1 0.100 None 0
CUI: C0014038
Disease: Encephalitis
Encephalitis
disease Nervous System Diseases Disease or Syndrome 324 18 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
Decreased lymphocyte proliferation in response to mitogen
phenotype Cell or Molecular Dysfunction 13 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: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.100 None 0
Chronic hepatitis due to cryptosporidium infection
disease Digestive System Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease Digestive System Diseases Disease or Syndrome 188 276 0.100 None 0
CUI: C0008311
Disease: Cholangitis
Cholangitis
disease Digestive System Diseases Disease or Syndrome 80 1 0.100 None 0
Abnormality of the respiratory system
disease Anatomical Abnormality 16 0.100 None 0
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