| Symbol |
Name |
|
AIRE
|
autoimmune regulator
|
|
BTD
|
biotinidase
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CD19
|
CD19 molecule
|
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DRD5
|
dopamine receptor D5
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FOXC2
|
forkhead box C2
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
LBR
|
lamin B receptor
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MEFV
|
Mediterranean fever
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
PLG
|
plasminogen
|
|
POLH
|
polymerase (DNA directed), eta
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
SAMD9
|
sterile alpha motif domain containing 9
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
TLR4
|
toll-like receptor 4
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNXB
|
tenascin XB
|
|
TP63
|
tumor protein p63
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
