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: C2931884
Disease: Reticuloendotheliosis, familial, with eosinophilia
Reticuloendotheliosis, familial, with eosinophilia 		3 0 3 0.30 0 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		10 0 4 0.25 0 0
CUI: C1849236
Disease: Severe combined immunodeficiency, atypical
Severe combined immunodeficiency, atypical 		5 0 3 0.25 0 0
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia 		6 0 3 0.23 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 2 0.20 0 0
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		2 7 2 0.20 2 0.29
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		2 0 2 0.20 0 0
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		2 0 2 0.20 0 0
CUI: C4021113
Disease: Abnormal T cell count
Abnormal T cell count 		2 0 2 0.20 0 0
CUI: C4021208
Disease: Abnormal B cell count
Abnormal B cell count 		2 0 2 0.20 0 0
CUI: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		9 0 3 0.19 0 0
CUI: C0264272
Disease: Purulent rhinitis
Purulent rhinitis 		3 0 2 0.18 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 2 0.18 0 0
CUI: C1720956
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 2
Hyper-IgM Immunodeficiency Syndrome, Type 2 		3 0 2 0.18 0 0
CUI: C1720957
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 3
Hyper-IgM Immunodeficiency Syndrome, Type 3 		3 0 2 0.18 0 0
CUI: C1720958
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 5
Hyper-IgM Immunodeficiency Syndrome, Type 5 		3 0 2 0.18 0 0
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		3 0 2 0.18 0 0
CUI: C4021036
Disease: Abnormal natural killer cell count
Abnormal natural killer cell count 		3 0 2 0.18 0 0
CUI: C4531148
Disease: Reduced antigen-specific T cell proliferation
Reduced antigen-specific T cell proliferation 		3 0 2 0.18 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 2 0.17 0 0
CUI: C1842528
Disease: Impaired Ig class switch recombination
Impaired Ig class switch recombination 		4 0 2 0.17 0 0
CUI: C0024904
Disease: Mastoiditis
Mastoiditis 		5 0 2 0.15 0 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		20 0 4 0.15 0 0
CUI: C4025681
Disease: Recurrent enteroviral infections
Recurrent enteroviral infections 		5 0 2 0.15 0 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte 		13 0 3 0.15 0 0