Common variable immunodeficiency

Disease Term Disease ID Gene Symbol Classification References Source
COMMON VARIABLE IMMUNODEFICIENCY
MONDO_0015517C0009447MONDO:0015517MESH:D017074
NKX2-3 Unknown
26301688
GWAS catalog
NPIPB6 Unknown
26301688
GWAS catalog
PDE4A Unknown
26301688
GWAS catalog
PHTF1 Unknown
26301688
GWAS catalog
PRKCD Unknown
23319571
Disgenet GWAS catalog
PSD Unknown — Disgenet
RSBN1 Unknown
26301688
GWAS catalog
SBK1 Unknown
26301688
GWAS catalog
SEC61A1 Unknown — Disgenet
SLC25A28 Unknown
26301688
GWAS catalog
SLC9A4 Unknown
26301688
GWAS catalog
SMAD3 Unknown
26301688
GWAS catalog
STMN3 Unknown
26301688
GWAS catalog
SUOX Unknown
26301688
GWAS catalog
TENM3 Unknown
26301688
GWAS catalog
TNFRSF13C Unknown — CTD Disgenet GenCC
TNFSF12 Unknown
12411489 16325585 23493554 33859323 9405449 9560343
ClinGen Disgenet GWAS catalog
TNFSF12-TNFSF13 Unknown — Disgenet
TNFSF13 Unknown
10973284 18180376 32298700
ClinGen Disgenet
TNFSF15 Unknown
26301688
GWAS catalog
TTC33 Unknown
26301688
GWAS catalog
TTC7A Unknown — Disgenet
ZMIZ1 Unknown
26301688
GWAS catalog
ZPBP2 Unknown
26301688
GWAS catalog
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO CD19/CD81 DEFICIENCY
696881
CD19 Unknown
21330302
Orphanet
CD81 Unknown
21970952
Orphanet
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO CD21 DEFICIENCY
696894
CR2 Unknown
22035880 38817346
Orphanet
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO HOMOZYGOUS TACI DEFICIENCY
696907
TNFRSF13B Unknown
16007086
Orphanet
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO IKAROS FUNCTIONAL HAPLOINSUFFICIENCY
317473
IKZF1 Unknown
21548011 26981933
Orphanet
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO IRF2BP2 DEFICIENCY
696904
IRF2BP2 Unknown
27016798
Orphanet
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO SEC61A1 DEFICIENCY
697417
SEC61A1 Unknown
28782633
Orphanet
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO TWEAK DEFICIENCY
696931
TNFSF12 Unknown
23493554
Orphanet