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: C0494266
Disease: Other specified immunodeficiencies
Other specified immunodeficiencies 		1 0 1 0.33 0 0
CUI: C0857362
Disease: Groin nodes
Groin nodes 		1 0 1 0.33 0 0
CUI: C1852429
Disease: Cataract, Variable Zonular Pulverulent
Cataract, Variable Zonular Pulverulent 		1 0 1 0.33 0 0
CUI: C4023393
Disease: Recurrent viral skin infections
Recurrent viral skin infections 		1 0 1 0.33 0 0
CUI: C4531052
Disease: Abnormally low T cell receptor excision circle level
Abnormally low T cell receptor excision circle level 		1 0 1 0.33 0 0
CUI: C4531152
Disease: Reduced proportion of naive T cells
Reduced proportion of naive T cells 		1 0 1 0.33 0 0
CUI: C0149777
Disease: Abscess of skin AND/OR subcutaneous tissue
Abscess of skin AND/OR subcutaneous tissue 		2 0 1 0.25 0 0
CUI: C1833487
Disease: Varicella, Severe Recurrent
Varicella, Severe Recurrent 		2 0 1 0.25 0 0
CUI: C1855771
Disease: Immune Deficiency Disease
Immune Deficiency Disease 		2 0 1 0.25 0 0
CUI: C3279748
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 		2 0 1 0.25 0 0
CUI: C4014371
Disease: IMMUNODEFICIENCY 23
IMMUNODEFICIENCY 23 		2 0 1 0.25 0 0
CUI: C4721531
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 		2 0 1 0.25 0 0
CUI: C0398788
Disease: Immunodeficiency syndrome, variable
Immunodeficiency syndrome, variable 		3 0 1 0.20 0 0
CUI: C0410192
Disease: Muscular Dystrophy, Scapulohumeral
Muscular Dystrophy, Scapulohumeral 		3 0 1 0.20 0 0
CUI: C0576999
Disease: Tonsil absent
Tonsil absent 		3 0 1 0.20 0 0
CUI: C1845604
Disease: Recurrent bacterial meningitis
Recurrent bacterial meningitis 		3 0 1 0.20 0 0
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		3 0 1 0.20 0 0
CUI: C4477053
Disease: Decreased proportion of CD3-positive T cells
Decreased proportion of CD3-positive T cells 		9 0 2 0.20 0 0
CUI: C4531148
Disease: Reduced antigen-specific T cell proliferation
Reduced antigen-specific T cell proliferation 		3 0 1 0.20 0 0
CUI: C4551557
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 		3 0 1 0.20 0 0
CUI: C1850816
Disease: Decreased/absent ankle reflexes
Decreased/absent ankle reflexes 		4 0 1 0.17 0 0
CUI: C4025683
Disease: Lymph node hypoplasia
Lymph node hypoplasia 		4 0 1 0.17 0 0
CUI: C0700216
Disease: Structural Clinical Interview for DSM-III
Structural Clinical Interview for DSM-III 		5 0 1 0.14 0 0
CUI: C1333431
Disease: EBV-Related Lymphoma
EBV-Related Lymphoma 		5 0 1 0.14 0 0
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		5 0 1 0.14 0 0