Symbol |
Name |
ACVRL1
|
activin A receptor type II-like 1
|
AIRE
|
autoimmune regulator
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
ATM
|
ATM serine/threonine kinase
|
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
|
CTSA
|
cathepsin A
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
DRD5
|
dopamine receptor D5
|
ENG
|
endoglin
|
ERCC2
|
excision repair cross-complementation group 2
|
ERCC6
|
excision repair cross-complementation group 6
|
FGF23
|
fibroblast growth factor 23
|
FGFR2
|
fibroblast growth factor receptor 2
|
FOXC2
|
forkhead box C2
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
GDF2
|
growth differentiation factor 2
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
GLA
|
galactosidase, alpha
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
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
|
KL
|
klotho
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
KRT1
|
keratin 1, type II
|
KRT10
|
keratin 10, type I
|
LBR
|
lamin B receptor
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
MANBA
|
mannosidase, beta A, lysosomal
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
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
|
PCNA
|
proliferating cell nuclear antigen
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
PITX2
|
paired-like homeodomain 2
|
PLG
|
plasminogen
|
POLH
|
polymerase (DNA directed), eta
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
PTEN
|
phosphatase and tensin homolog
|
RAG1
|
recombination activating gene 1
|
RAG2
|
recombination activating gene 2
|
SALL1
|
spalt-like transcription factor 1
|
SAMD9
|
sterile alpha motif domain containing 9
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
SETX
|
senataxin
|
SMAD4
|
SMAD family member 4
|
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
|