rs397518423, PIK3CD

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ACTIVATED PI3K-DELTA SYNDROME
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
6 0.790 0.240 1 9726972 missense variant G/A snv 0.820 1.000 8 2006 2018
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.240 1 9726972 missense variant G/A snv 0.700 0
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.790 0.240 1 9726972 missense variant G/A snv 0.700 0
Lymphadenopathy
CUI: C0497156
Disease: Lymphadenopathy
5 0.790 0.240 1 9726972 missense variant G/A snv 0.700 0
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.790 0.240 1 9726972 missense variant G/A snv 0.700 0
Adult Burkitt Lymphoma
CUI: C0278764
Disease: Adult Burkitt Lymphoma
7 0.790 0.240 1 9726972 missense variant G/A snv 0.010 1.000 1 2019 2019
Burkitt Lymphoma
CUI: C0006413
Disease: Burkitt Lymphoma
13 0.790 0.240 1 9726972 missense variant G/A snv 0.010 1.000 1 2019 2019
Childhood Burkitt Lymphoma
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
7 0.790 0.240 1 9726972 missense variant G/A snv 0.010 1.000 1 2019 2019
EBV viremia
CUI: C1701919
Disease: EBV viremia
1 0.790 0.240 1 9726972 missense variant G/A snv 0.010 1.000 1 2017 2017
Recurrent otitis media
CUI: C0747085
Disease: Recurrent otitis media
11 0.790 0.240 1 9726972 missense variant G/A snv 0.010 1.000 1 2017 2017