Disease Term Disease ID Gene Symbol References
Agammaglobulinemia C0001768 BTK 10352268, 15142874
CD19 16672701
CD79A 19302039
CD79B 24722855
TIMM8A
HELLS
IGHM 12370281
IGLL1 27576013
IKBKB
IL2RG
CIITA
PIK3R1 25488983
RFX5
RFXAP
TCF3 29114388
TCN2 18956254, 18956255, 10518276
SLC39A7 30718914
RFXANK
BLNK 25893637
SH3KBP1
LRRC8A
CDCA7
Agammaglobulinemia, non-Bruton type C1832241 CD79A 11920841
CD79B 17675462, 17709424
IGHM 8890099
IGLL1 9419212
PIK3R1 22351933
TCF3 24216514
BLNK 10583958
LRRC8A 14660746
AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE C3150751 CD79A 19302039
AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE C3150207 CD79B 17675462, 24722855
AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE C3150750 IGLL1 27576013, 9419212
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE C3554689 PIK3R1 23980586, 22351933, 25488983, 24886349, 27766312, 25133428, 28632845, 25326637, 26974159, 23810379, 26529633, 23810378, 23810382
AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT C4310786 TCF3 29114388
AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE C3150752 BLNK 25893637
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT C3150753 LRRC8A
AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE C3152144 BTK
IGHM 12370281
Autosomal agammaglobulinemia 33110 IGHM
IGLL1
LRRC8A
TCF3
CD79A
CD79B
BLNK
PIK3R1