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: C0042721
Disease: Viral hepatitis
Viral hepatitis
group Digestive System Diseases; Infections Disease or Syndrome 79 5 0.100 None 0
CUI: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 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: 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: C0035455
Disease: Rhinitis
Rhinitis
disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 178 20 0.100 None 0
Abnormality of blood and blood-forming tissues
disease Finding 23 1 0.100 None 0
Recurrent lower respiratory tract infection
phenotype Disease or Syndrome 23 0.100 None 0
CUI: C0015230
Disease: Exanthema
Exanthema
phenotype Skin and Connective Tissue Diseases Sign or Symptom 251 14 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: 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: C4025202
Disease: Recurrent protozoan infections
Recurrent protozoan infections
phenotype Finding 4 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: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 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
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
Chronic hepatitis due to cryptosporidium infection
disease Digestive System Diseases Disease or Syndrome 5 0.100 None 0
Abnormality of the respiratory system
disease Anatomical Abnormality 16 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: C0002880
Disease: Autoimmune hemolytic anemia
Autoimmune hemolytic anemia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 81 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: 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