Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Severe combined immunodeficiency due to adenosine deaminase deficiency
24 15 15 0.58 2 0.13
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections
10 0 6 0.29 0 0
Phosphoribosylpyrophosphate Synthetase Superactivity
6 0 5 0.28 0 0
Combined molybdoflavoprotein enzyme deficiency
13 0 5 0.20 0 0
CUI: C0576999
Disease: Tonsil absent
Tonsil absent
3 0 3 0.18 0 0
Purine-nucleoside phosphorylase deficiency
4 0 3 0.17 0 0
CUI: C4025683
Disease: Lymph node hypoplasia
Lymph node hypoplasia
4 0 3 0.17 0 0
Severe combined immunodeficiency, atypical
5 0 3 0.16 0 0
CUI: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte
13 0 4 0.15 0 0
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia
6 0 3 0.15 0 0
Desquamation of skin soon after birth
14 0 4 0.15 0 0
CUI: C4024599
Disease: Chronic oral candidiasis
Chronic oral candidiasis
8 0 3 0.14 0 0
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
35 0 6 0.13 0 0
Decreased proportion of CD3-positive T cells
9 0 3 0.13 0 0
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections
20 0 4 0.12 0 0
CUI: C1855771
Disease: Immune Deficiency Disease
Immune Deficiency Disease
2 0 2 0.12 0 0
CUI: C1837066
Disease: Recurrent viral infection
Recurrent viral infection
32 0 5 0.11 0 0
CUI: C0282492
Disease: Sneddon Syndrome
Sneddon Syndrome
3 0 2 0.11 0 0
CUI: C1855067
Disease: B lymphocytopenia
B lymphocytopenia
13 0 3 0.11 0 0
Reticuloendotheliosis, familial, with eosinophilia
3 0 2 0.11 0 0
Decreased lymphocyte proliferation in response to mitogen
13 0 3 0.11 0 0
CUI: C1744558
Disease: T-lymphocyte deficiency
T-lymphocyte deficiency
25 0 4 0.11 0 0
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive
4 0 2 0.11 0 0
CUI: C1274233
Disease: T-lymphocyte immunodeficiency
T-lymphocyte immunodeficiency
15 0 3 0.10 0 0
Structural Clinical Interview for DSM-III
5 0 2 1.0E-01 0 0