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: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood 		75 0 18 9.8E-02 0 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		345 0 37 8.5E-02 0 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		175 0 23 8.2E-02 0 0
CUI: C3714745
Disease: Malabsorption
Malabsorption 		175 0 23 8.2E-02 0 0
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		86 0 16 8.1E-02 0 0
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		239 0 24 7.0E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 12 6.9E-02 0 0
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		139 0 17 6.8E-02 0 0
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		239 0 23 6.7E-02 0 0
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		176 22 19 6.7E-02 3 9.1E-02
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		165 0 18 6.6E-02 0 0
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 18 6.2E-02 1 2.1E-02
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		318 0 26 6.2E-02 0 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism 		113 0 14 6.2E-02 0 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		96 11 13 6.2E-02 1 4.2E-02
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		80 0 12 6.2E-02 0 0
CUI: C0152421
Disease: Macrotia
Macrotia 		188 0 18 6.1E-02 0 0
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		277 0 23 6.0E-02 0 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		121 0 14 6.0E-02 0 0
CUI: C0027947
Disease: Neutropenia
Neutropenia 		389 0 29 6.0E-02 0 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		212 0 19 5.9E-02 0 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		105 0 13 5.9E-02 0 0
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		70 0 11 5.9E-02 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 12 5.9E-02 0 0
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		35 0 9 5.9E-02 0 0