Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0239984
Disease: Increased IgA level
Increased IgA level
1 1 1 0.20 1 1.00
Cataract, Variable Zonular Pulverulent
1 0 1 0.20 0 0
CUI: C1858977
Disease: Increased IgG level
Increased IgG level
1 1 1 0.20 1 1.00
Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
1 0 1 0.20 0 0
Linear arrays of macular hyperkeratoses in flexural areas
1 0 1 0.20 0 0
CUI: C3281001
Disease: WISKOTT-ALDRICH SYNDROME 2
WISKOTT-ALDRICH SYNDROME 2
1 0 1 0.20 0 0
CUI: C3810107
Disease: IMMUNODEFICIENCY 17
IMMUNODEFICIENCY 17
1 0 1 0.20 0 0
CUI: C4022557
Disease: Defective T cell proliferation
Defective T cell proliferation
1 0 1 0.20 0 0
CUI: C4023393
Disease: Recurrent viral skin infections
Recurrent viral skin infections
1 0 1 0.20 0 0
Decreased proportion of naive B cells
1 1 1 0.20 1 1.00
Increased proportion of memory B cells
1 1 1 0.20 1 1.00
CUI: C4476830
Disease: Psoriasiform lesion
Psoriasiform lesion
1 0 1 0.20 0 0
Abnormally low T cell receptor excision circle level
1 0 1 0.20 0 0
CUI: C4531152
Disease: Reduced proportion of naive T cells
Reduced proportion of naive T cells
1 0 1 0.20 0 0
CUI: C4721383
Disease: Abnormal esophagus morphology
Abnormal esophagus morphology
1 1 1 0.20 1 1.00
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
1 3 1 0.20 1 0.33
CUI: C1833487
Disease: Varicella, Severe Recurrent
Varicella, Severe Recurrent
2 0 1 0.17 0 0
CUI: C1839972
Disease: Increased IgM level
Increased IgM level
2 2 1 0.17 1 0.50
CUI: C1855771
Disease: Immune Deficiency Disease
Immune Deficiency Disease
2 0 1 0.17 0 0
CUI: C3810127
Disease: IMMUNODEFICIENCY 18
IMMUNODEFICIENCY 18
2 0 1 0.17 0 0
Abnormal natural killer cell morphology
2 1 1 0.17 1 1.00
Decreased proportion of CD3-positive T cells
9 0 2 0.17 0 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections
10 0 2 0.15 0 0
CUI: C0576999
Disease: Tonsil absent
Tonsil absent
3 0 1 0.14 0 0
CUI: C0855999
Disease: Abnormal eosinophil morphology
Abnormal eosinophil morphology
3 0 1 0.14 0 0