| Symbol |
Name |
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ACSF3
|
acyl-CoA synthetase family member 3
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ADA
|
adenosine deaminase
|
|
ADAM17
|
ADAM metallopeptidase domain 17
|
|
AGA
|
aspartylglucosaminidase
|
|
AIRE
|
autoimmune regulator
|
|
AK2
|
adenylate kinase 2
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
ARX
|
aristaless related homeobox
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BLNK
|
B-cell linker
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BTD
|
biotinidase
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C5
|
complement component 5
|
|
CASP8
|
caspase 8, apoptosis-related cysteine peptidase
|
|
CD247
|
CD247 molecule
|
|
CD3D
|
CD3d molecule, delta (CD3-TCR complex)
|
|
CD40LG
|
CD40 ligand
|
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DES
|
desmin
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
FOXP3
|
forkhead box P3
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GLA
|
galactosidase, alpha
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IDS
|
iduronate 2-sulfatase
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IGLL1
|
immunoglobulin lambda-like polypeptide 1
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
IKBKB
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
|
|
IL21
|
interleukin 21
|
|
IL21R
|
interleukin 21 receptor
|
|
IL2RA
|
interleukin 2 receptor, alpha
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
ITCH
|
itchy E3 ubiquitin protein ligase
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGB4
|
integrin, beta 4
|
|
JAK3
|
Janus kinase 3
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LCK
|
LCK proto-oncogene, Src family tyrosine kinase
|
|
LCT
|
lactase
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRRC8A
|
leucine rich repeat containing 8 family, member A
|
|
MCM6
|
minichromosome maintenance complex component 6
|
|
MEFV
|
Mediterranean fever
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MPI
|
mannose phosphate isomerase
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MVK
|
mevalonate kinase
|
|
MYO5B
|
myosin VB
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NBN
|
nibrin
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NEUROG3
|
neurogenin 3
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
NRTN
|
neurturin
|
|
OPLAH
|
5-oxoprolinase (ATP-hydrolysing)
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PHKB
|
phosphorylase kinase, beta
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PMM2
|
phosphomannomutase 2
|
|
PTPRC
|
protein tyrosine phosphatase, receptor type, C
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RECQL4
|
RecQ protein-like 4
|
|
RET
|
ret proto-oncogene
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFX6
|
regulatory factor X, 6
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
|
SCN11A
|
sodium channel, voltage gated, type XI alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SI
|
sucrase-isomaltase (alpha-glucosidase)
|
|
SKIV2L
|
superkiller viralicidic activity 2-like (S. cerevisiae)
|
|
SLC10A2
|
solute carrier family 10 (sodium/bile acid cotransporter), member 2
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC26A3
|
solute carrier family 26 (anion exchanger), member 3
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC5A1
|
solute carrier family 5 (sodium/glucose cotransporter), member 1
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SMAD4
|
SMAD family member 4
|
|
SPINT2
|
serine peptidase inhibitor, Kunitz type, 2
|
|
TCF3
|
transcription factor 3
|
|
TCN2
|
transcobalamin II
|
|
TMPRSS15
|
transmembrane protease, serine 15
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TREH
|
trehalase (brush-border membrane glycoprotein)
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTR
|
transthyretin
|
|
TYMP
|
thymidine phosphorylase
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
ZAP70
|
zeta-chain (TCR) associated protein kinase 70kDa
|
