| Symbol |
Name |
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ADA
|
adenosine deaminase
|
|
AGA
|
aspartylglucosaminidase
|
|
AIRE
|
autoimmune regulator
|
|
AK2
|
adenylate kinase 2
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
APC
|
adenomatous polyposis coli
|
|
APOB
|
apolipoprotein B
|
|
ARX
|
aristaless related homeobox
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
AVP
|
arginine vasopressin
|
|
BAAT
|
bile acid CoA:amino acid N-acyltransferase
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BLNK
|
B-cell linker
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD19
|
CD19 molecule
|
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
|
CD81
|
CD81 molecule
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
COX4I2
|
cytochrome c oxidase subunit IV isoform 2 (lung)
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTGF
|
connective tissue growth factor
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DCTN4
|
dynactin 4 (p62)
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
ELN
|
elastin
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FAT4
|
FAT atypical cadherin 4
|
|
GIF
|
gastric intrinsic factor (vitamin B synthesis)
|
|
GLA
|
galactosidase, alpha
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HBB
|
hemoglobin, beta
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IGLL1
|
immunoglobulin lambda-like polypeptide 1
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
IRF5
|
interferon regulatory factor 5
|
|
JAK2
|
Janus kinase 2
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LCT
|
lactase
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LPIN2
|
lipin 2
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRRC8A
|
leucine rich repeat containing 8 family, member A
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
MCM6
|
minichromosome maintenance complex component 6
|
|
MEFV
|
Mediterranean fever
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MPI
|
mannose phosphate isomerase
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYO5B
|
myosin VB
|
|
NBN
|
nibrin
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
ND1
|
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PKP1
|
plakophilin 1
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNLIP
|
pancreatic lipase
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRKCD
|
protein kinase C, delta
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
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
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SI
|
sucrase-isomaltase (alpha-glucosidase)
|
|
SLC10A2
|
solute carrier family 10 (sodium/bile acid cotransporter), member 2
|
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STX1A
|
syntaxin 1A (brain)
|
|
STX3
|
syntaxin 3
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCF3
|
transcription factor 3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TJP2
|
tight junction protein 2
|
|
TLR4
|
toll-like receptor 4
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
|
|
TNXB
|
tenascin XB
|
|
TRNE
|
|
|
TYMP
|
thymidine phosphorylase
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
