Source: ALL
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: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		2 0 2 1.00 0 0
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		2 19 2 1.00 3 0.14
CUI: C4021113
Disease: Abnormal T cell count
Abnormal T cell count 		2 0 2 1.00 0 0
CUI: C4021208
Disease: Abnormal B cell count
Abnormal B cell count 		2 0 2 1.00 0 0
CUI: C0264272
Disease: Purulent rhinitis
Purulent rhinitis 		3 0 2 0.67 0 0
CUI: C2931884
Disease: Reticuloendotheliosis, familial, with eosinophilia
Reticuloendotheliosis, familial, with eosinophilia 		3 0 2 0.67 0 0
CUI: C4021036
Disease: Abnormal natural killer cell count
Abnormal natural killer cell count 		3 0 2 0.67 0 0
CUI: C4531148
Disease: Reduced antigen-specific T cell proliferation
Reduced antigen-specific T cell proliferation 		3 0 2 0.67 0 0
CUI: C0037280
Disease: Skin Diseases, Parasitic
Skin Diseases, Parasitic 		1 0 1 0.50 0 0
CUI: C0477324
Disease: Other combined immunodeficiencies
Other combined immunodeficiencies 		1 0 1 0.50 0 0
CUI: C1832322
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive 		4 32 2 0.50 3 8.8E-02
CUI: C0024904
Disease: Mastoiditis
Mastoiditis 		5 0 2 0.40 0 0
CUI: C4025681
Disease: Recurrent enteroviral infections
Recurrent enteroviral infections 		5 0 2 0.40 0 0
CUI: C1855771
Disease: Immune Deficiency Disease
Immune Deficiency Disease 		2 0 1 0.33 0 0
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia 		6 0 2 0.33 0 0
CUI: C2703042
Disease: malignant neoplasm of bone marrow
malignant neoplasm of bone marrow 		2 0 1 0.33 0 0
CUI: C1832323
Disease: Failure to thrive secondary to recurrent infections
Failure to thrive secondary to recurrent infections 		7 0 2 0.29 0 0
CUI: C0267541
Disease: Typhlocolitis
Typhlocolitis 		3 0 1 0.25 0 0
CUI: C0451693
Disease: Severe combined immunodeficiency with low T- and B-cell numbers
Severe combined immunodeficiency with low T- and B-cell numbers 		3 0 1 0.25 0 0
CUI: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		9 0 2 0.22 0 0
CUI: C0267537
Disease: Typhlitis
Typhlitis 		4 0 1 0.20 0 0
CUI: C0268125
Disease: Purine-nucleoside phosphorylase deficiency
Purine-nucleoside phosphorylase deficiency 		4 0 1 0.20 0 0
CUI: C0398795
Disease: Secondary immune deficiency disorder
Secondary immune deficiency disorder 		4 0 1 0.20 0 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		10 0 2 0.20 0 0
CUI: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		10 0 2 0.20 0 0