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: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		23 0 9 0.11 0 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		13 0 8 0.11 0 0
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		86 0 15 0.11 0 0
CUI: C0039621
Disease: Tetany
Tetany 		24 0 9 0.11 0 0
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		25 0 9 0.10 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		345 0 39 0.10 0 0
CUI: C1844383
Disease: Recurrent bacterial infection
Recurrent bacterial infection 		69 0 13 0.10 0 0
CUI: C4023452
Disease: Elevated C-reactive protein level
Elevated C-reactive protein level 		28 0 9 0.10 0 0
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		94 0 15 0.10 0 0
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		127 0 18 0.10 0 0
CUI: C0031046
Disease: Pericarditis
Pericarditis 		51 0 11 1.0E-01 0 0
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		7 0 7 1.0E-01 0 0
CUI: C3805919
Disease: Recurrent intrapulmonary hemorrhage
Recurrent intrapulmonary hemorrhage 		7 0 7 1.0E-01 0 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		7 0 7 1.0E-01 0 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		7 0 7 1.0E-01 0 0
CUI: C0033774
Disease: Pruritus
Pruritus 		107 0 16 9.9E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 9 9.8E-02 0 0
CUI: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		9 0 7 9.7E-02 0 0
CUI: C0235896
Disease: Pulmonary Infiltrate
Pulmonary Infiltrate 		43 0 10 9.7E-02 0 0
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 9 9.7E-02 0 0
CUI: C1832324
Disease: Recurrent opportunistic infections
Recurrent opportunistic infections 		10 0 7 9.6E-02 0 0
CUI: C1833434
Disease: Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities 		10 0 7 9.6E-02 0 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		10 0 7 9.6E-02 0 0
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma 		56 0 11 9.6E-02 0 0
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		92 0 14 9.5E-02 0 0