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: C0221277
Disease: Atypical lymphocyte
Atypical lymphocyte
13 0 9 0.20 0 0
Desquamation of skin soon after birth
14 0 9 0.20 0 0
CUI: C1836195
Disease: Short toe
Short toe
56 3 12 0.14 1 0.33
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections
10 0 6 0.14 0 0
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
35 0 9 0.14 0 0
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea
62 0 12 0.13 0 0
CUI: C1848654
Disease: Broad ribs
Broad ribs
18 0 6 0.12 0 0
Decreased proportion of CD3-positive T cells
9 0 5 0.11 0 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica
10 0 5 0.11 0 0
CUI: C4021956
Disease: Aplasia/Hypoplasia of the eyebrow
Aplasia/Hypoplasia of the eyebrow
52 0 9 0.11 0 0
CUI: C0011606
Disease: Exfoliative dermatitis
Exfoliative dermatitis
64 0 10 0.11 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
97 0 13 0.10 0 0
CUI: C1863715
Disease: Severe B lymphocytopenia
Severe B lymphocytopenia
6 0 4 9.5E-02 0 0
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis
30 2 6 9.4E-02 1 0.50
CUI: C0013604
Disease: Edema
Edema
126 0 14 9.2E-02 0 0
CUI: C1844384
Disease: Recurrent fungal infections
Recurrent fungal infections
20 0 5 9.1E-02 0 0
CUI: C0004368
Disease: Autoimmune state
Autoimmune state
70 0 9 8.9E-02 0 0
CUI: C1562061
Disease: Microspherophakia
Microspherophakia
9 0 4 8.9E-02 0 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity
22 0 5 8.8E-02 0 0
Decreased lymphocyte proliferation in response to mitogen
13 0 4 8.2E-02 0 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
137 0 13 7.9E-02 0 0
CUI: C1854912
Disease: Short long bone
Short long bone
42 0 6 7.9E-02 0 0
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency
17 0 4 7.5E-02 0 0
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia
17 0 4 7.5E-02 0 0
CUI: C0576999
Disease: Tonsil absent
Tonsil absent
3 0 3 7.5E-02 0 0