Immunologic deficiency syndromes

Disease Term Disease ID Gene Symbol References
Immunologic Deficiency Syndromes C0021051 ACTB
AGL
XIAP
ARVCF
ATM 27421701
ATRX
BCR
BLM 17407155
BTK
C1QB 2894352
C3 1350678
C4A 8473511
C5 7730648
C8A 9759902
C8B 8098723
C9 9570574, 11359403
CACNA1C 15454078
CAV1
CD3D
CD3E 8490660
CD3G
CD247
CD19
MS4A1
CD28
CD36 15690042
CD40
CD40LG
CD79A
CD79B
CD81
LRBA
CDC42
CFTR
CHD1
LYST
COMT
CR2
CRKL
CTBP1
CTLA4
CTPS1
CYBA
CYBB
CFD 11457876, 16527897
DKC1
DNMT3B 17908720
DOCK2
FCGR3A
FOS
GATA1
GATA2
GP1BB
HBB
CFH 14978182
IRF8
SP110
IFNGR1
IFNGR2
IGHM
IGLL1
IKBKB
IL2RA
IL2RB
IL12B
IL12RB1
IRF7
LCK
LEPR 17229951
LETM1
SH2D1A
MEIS2
MMUT
MYC
MYD88
MYH7
MYOC
NCF2
NFE2L2
NFKB1
NFKB2
PARN
PGM3
PIK3CD
PIK3R1
PKP1
POLE
PPARG
PRKCD
MAPK1
PRPS1
RAB27A
RAC2
RAG1
RAG2
RREB1
SKIV2L
STAT1
STIM1
STK4
STX1A
TBX1
TCF3
TERT
TFRC
TGFB1
TNFRSF1B
HIRA
TNFRSF4
TYK2
UFD1
UNG
UROS
WAS
WIPF1
WHCR
NSD2
XRCC4
ZAP70 17767948
CUL4B
FOXN1
IKBKG
FCN3 19535802
TNFSF12
BCL10
AP3D1
UNC119
USP8
SEC24C
ISG15
TTC37
ZBTB24
RASGRP1 27776107
IKZF1
HYOU1
AGPAT2
CPLX1
MALT1
CORO1A
CLCA4
SIK3
TNFRSF13B
SIN3A
TINF2
BSCL2
LAT
LAMTOR2
BLNK
ICOS
IL21R
IRAK4
DCTN4
MBTPS2
POMP
NBAS 27789416
RTEL1
ADA2
FGFRL1
CHD7 20052490
LRRC8A
AICDA
COG6
EPG5 23222957
IL21
CDH23
CARD9
ACD
NHEJ1
MAGT1
CARD11
LMNB2
ORAI1
SHANK3
SLC46A1
MYSM1 26474655
TNFRSF13C
ANTXR2
C11orf65
RNF168
JMJD1C
CAVIN1
IRF2BP2
NCF1
MYOCOS