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: C1842714
Disease: Desquamation of skin soon after birth
Desquamation of skin soon after birth 		14 0 9 0.50 0 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		10 0 6 0.35 0 0
CUI: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		9 0 5 0.29 0 0
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia 		6 0 4 0.27 0 0
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome 		35 0 10 0.26 0 0
CUI: C0576999
Disease: Tonsil absent
Tonsil absent 		3 0 3 0.23 0 0
CUI: C2931884
Disease: Reticuloendotheliosis, familial, with eosinophilia
Reticuloendotheliosis, familial, with eosinophilia 		3 0 3 0.23 0 0
CUI: C0241165
Disease: Thick skin
Thick skin 		40 0 9 0.20 0 0
CUI: C0700216
Disease: Structural Clinical Interview for DSM-III
Structural Clinical Interview for DSM-III 		5 0 3 0.20 0 0
CUI: C1849236
Disease: Severe combined immunodeficiency, atypical
Severe combined immunodeficiency, atypical 		5 0 3 0.20 0 0
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		6 0 3 0.19 0 0
CUI: C1855755
Disease: Abnormal immunoglobulin level
Abnormal immunoglobulin level 		6 0 3 0.19 0 0
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis 		64 0 12 0.18 0 0
CUI: C4531166
Disease: Decreased lymphocyte proliferation in response to mitogen
Decreased lymphocyte proliferation in response to mitogen 		13 0 4 0.18 0 0
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections 		20 0 5 0.18 0 0
CUI: C1832323
Disease: Failure to thrive secondary to recurrent infections
Failure to thrive secondary to recurrent infections 		7 0 3 0.18 0 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow 		52 0 9 0.16 0 0
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency 		17 0 4 0.15 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 0.15 0 0
CUI: C1855771
Disease: Immune Deficiency Disease
Immune Deficiency Disease 		2 0 2 0.15 0 0
CUI: C1867362
Disease: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE
SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 		2 0 2 0.15 0 0
CUI: C2673536
Disease: Combined Cellular And Humoral Immune Defects With Granulomas
Combined Cellular And Humoral Immune Defects With Granulomas 		2 0 2 0.15 0 0
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		17 0 4 0.15 0 0
CUI: C4021113
Disease: Abnormal T cell count
Abnormal T cell count 		2 0 2 0.15 0 0
CUI: C4021208
Disease: Abnormal B cell count
Abnormal B cell count 		2 0 2 0.15 0 0