Disease Term Disease ID Gene Symbol References
Acquired Hypogammaglobulinemia C2936664 CD19 16672701
MS4A1
CD81
CR2
NFKB1
NFKB2
IKZF1
TNFRSF13B
ICOS
IL21
TNFRSF13C
Antibody Deficiency due to Defect in CD19 C3150738 CD19 21159371
RABEP2
Common Variable Immunodeficiency C0009447, 1572 ADCY7 26301688
CACNA1C 21497890
CD19 16672701
MS4A1 21970952, 20038800
CD81 21970952
CR2 22035880
CTLA4 25329329
DAG1 26301688
FGF14 21497890
FUT2 26301688
GPR35 26301688
IL2RA 26301688
SMAD3 26301688
NFKB1 26279205
NFKB2 24888602, 25237204
CDK14 21497890
PRKCD 23319571
SUOX 26301688
SRPX 21497890
TNFSF12 23493554
TNFSF15 26301688
IKZF1
ATXN2L 26301688
LAMB4 21497890
FNBP1 26301688
ADGRL2 26301688
CRB1 26301688
TNFRSF13B 29114388, 16007086
HAVCR1 21497890
ICOS
IGF2-AS 26301688
ATG16L1 26301688
MAN1C1 21497890
ZMIZ1 26301688
ZNF630 21497890
IL21
ERAP2 26301688
CARD9 26301688
ANKRD55 26301688
NKD1 26301688
ANKRD30A 26301688
TNFRSF13C
LRRK2 26301688
IL23R 26301688
SNX31 21497890
TAB3 21497890
LURAP1L 26301688
IRF2BP2 27016798
C1orf141 26301688
IRF1-AS1 26301688
OR14J1 21497890
INS-IGF2 26301688
GNG12-AS1 21497890
LINC01250 26301688
LINC00993 26301688
KANTR 21497890
IMMUNODEFICIENCY, COMMON VARIABLE, 1 C3149378 NFKB2
ICOS 12577056, 19380800, 11343122, 29226301
IMMUNODEFICIENCY, COMMON VARIABLE, 10 C3809991 NFKB2 24702956, 24140114, 25524009, 25605273, 16303288, 26279205
IMMUNODEFICIENCY, COMMON VARIABLE, 11 C4014258 IL21 19890111, 24746753
IMMUNODEFICIENCY, COMMON VARIABLE, 12 C4225277 NFKB1 29477724, 29077208, 26279205
IMMUNODEFICIENCY, COMMON VARIABLE, 13 C4225173 IKZF1 26981933, 21548011
IMMUNODEFICIENCY, COMMON VARIABLE, 14 C4540380 IRF2BP2 27016798
IMMUNODEFICIENCY, COMMON VARIABLE, 2 C3150354 TNFRSF13B 23237420, 24051380, 16007086, 26100089, 17392797, 16007087, 20156508, 17392798, 21419480, 20889194, 26046366, 27123465, 21458042, 18981294, 19605846, 29114388, 19779048, 22983507, 22884984, 22697072
IMMUNODEFICIENCY, COMMON VARIABLE, 4 C3150739 TNFRSF13C
IMMUNODEFICIENCY, COMMON VARIABLE, 5 C3150740 MS4A1 27250108
IMMUNODEFICIENCY, COMMON VARIABLE, 6 C3150741 CD81 27250108
IMMUNODEFICIENCY, COMMON VARIABLE, 7 C3542922 CR2 26325596
IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY C3553512 LRBA 25468195, 22608502, 22721650, 27302973, 28473463, 25479458, 27057999