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: C1852429
Disease: Cataract, Variable Zonular Pulverulent
Cataract, Variable Zonular Pulverulent 		1 0 1 0.50 0 0
CUI: C4023393
Disease: Recurrent viral skin infections
Recurrent viral skin infections 		1 0 1 0.50 0 0
CUI: C4531052
Disease: Abnormally low T cell receptor excision circle level
Abnormally low T cell receptor excision circle level 		1 0 1 0.50 0 0
CUI: C4531152
Disease: Reduced proportion of naive T cells
Reduced proportion of naive T cells 		1 0 1 0.50 0 0
CUI: C1849236
Disease: Severe combined immunodeficiency, atypical
Severe combined immunodeficiency, atypical 		5 0 2 0.40 0 0
CUI: C1833487
Disease: Varicella, Severe Recurrent
Varicella, Severe Recurrent 		2 0 1 0.33 0 0
CUI: C1835931
Disease: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 		2 0 1 0.33 0 0
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		2 0 1 0.33 0 0
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		2 0 1 0.33 0 0
CUI: C4021113
Disease: Abnormal T cell count
Abnormal T cell count 		2 0 1 0.33 0 0
CUI: C4021208
Disease: Abnormal B cell count
Abnormal B cell count 		2 0 1 0.33 0 0
CUI: C0264272
Disease: Purulent rhinitis
Purulent rhinitis 		3 0 1 0.25 0 0
CUI: C0576999
Disease: Tonsil absent
Tonsil absent 		3 0 1 0.25 0 0
CUI: C1845604
Disease: Recurrent bacterial meningitis
Recurrent bacterial meningitis 		3 0 1 0.25 0 0
CUI: C1855767
Disease: Reduced natural killer cell count
Reduced natural killer cell count 		3 0 1 0.25 0 0
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		3 0 1 0.25 0 0
CUI: C2931884
Disease: Reticuloendotheliosis, familial, with eosinophilia
Reticuloendotheliosis, familial, with eosinophilia 		3 0 1 0.25 0 0
CUI: C4021036
Disease: Abnormal natural killer cell count
Abnormal natural killer cell count 		3 0 1 0.25 0 0
CUI: C4531148
Disease: Reduced antigen-specific T cell proliferation
Reduced antigen-specific T cell proliferation 		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: 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: 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 0 1 0.20 0 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		10 0 2 0.20 0 0
CUI: C4025683
Disease: Lymph node hypoplasia
Lymph node hypoplasia 		4 0 1 0.20 0 0