| Symbol |
Name |
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ACAD9
|
acyl-CoA dehydrogenase family, member 9
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACTN1
|
actinin, alpha 1
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS13
|
ADAM metallopeptidase with thrombospondin type 1 motif, 13
|
|
AGK
|
acylglycerol kinase
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANKRD26
|
ankyrin repeat domain 26
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
APOE
|
apolipoprotein E
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
CA2
|
carbonic anhydrase II
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CD19
|
CD19 molecule
|
|
CD36
|
CD36 molecule (thrombospondin receptor)
|
|
CD40LG
|
CD40 ligand
|
|
CD81
|
CD81 molecule
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COMT
|
catechol-O-methyltransferase
|
|
CR2
|
complement component (3d/Epstein Barr virus) receptor 2
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CYCS
|
cytochrome c, somatic
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DGKE
|
diacylglycerol kinase, epsilon 64kDa
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHFR
|
dihydrofolate reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
ELANE
|
elastase, neutrophil expressed
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6L2
|
excision repair cross-complementation group 6-like 2
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FCGR2C
|
Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
|
|
FLNA
|
filamin A, alpha
|
|
FOXP3
|
forkhead box P3
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GALC
|
galactosylceramidase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GBA
|
glucosidase, beta, acid
|
|
GFI1B
|
growth factor independent 1B transcription repressor
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GP9
|
glycoprotein IX (platelet)
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HOXA11
|
homeobox A11
|
|
HPS5
|
Hermansky-Pudlak syndrome 5
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
ITGA2
|
integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITK
|
IL2-inducible T-cell kinase
|
|
IVD
|
isovaleryl-CoA dehydrogenase
|
|
JAK2
|
Janus kinase 2
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LBR
|
lamin B receptor
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LYST
|
lysosomal trafficking regulator
|
|
MASTL
|
microtubule associated serine/threonine kinase-like
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MS4A1
|
membrane-spanning 4-domains, subfamily A, member 1
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MVK
|
mevalonate kinase
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
NBEAL2
|
neurobeachin-like 2
|
|
NBN
|
nibrin
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NHEJ1
|
nonhomologous end-joining factor 1
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH1
|
notch 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PEPD
|
peptidase D
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRKCD
|
protein kinase C, delta
|
|
PSAP
|
prosaposin
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAD51C
|
RAD51 paralog C
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RPS19
|
ribosomal protein S19
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RUNX1
|
runt-related transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SH2D1A
|
SH2 domain containing 1A
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SNX10
|
sorting nexin 10
|
|
STIM1
|
stromal interaction molecule 1
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STX11
|
syntaxin 11
|
|
TBX1
|
T-box 1
|
|
TBXAS1
|
thromboxane A synthase 1 (platelet)
|
|
TCN2
|
transcobalamin II
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM165
|
transmembrane protein 165
|
|
TNFRSF13B
|
tumor necrosis factor receptor superfamily, member 13B
|
|
TNFRSF13C
|
tumor necrosis factor receptor superfamily, member 13C
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNFSF12
|
tumor necrosis factor (ligand) superfamily, member 12
|
|
TREX1
|
three prime repair exonuclease 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
