| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ABCD4
|
ATP-binding cassette, sub-family D (ALD), member 4
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTN2
|
actinin, alpha 2
|
|
ADA
|
adenosine deaminase
|
|
ADAM17
|
ADAM metallopeptidase domain 17
|
|
AGA
|
aspartylglucosaminidase
|
|
AK2
|
adenylate kinase 2
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BLNK
|
B-cell linker
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
CAPN3
|
calpain 3, (p94)
|
|
CASP10
|
caspase 10, apoptosis-related cysteine peptidase
|
|
CD247
|
CD247 molecule
|
|
CD40
|
CD40 molecule, TNF receptor superfamily member 5
|
|
CD40LG
|
CD40 ligand
|
|
CD79A
|
CD79a molecule, immunoglobulin-associated alpha
|
|
CD79B
|
CD79b molecule, immunoglobulin-associated beta
|
|
CEBPE
|
CCAAT/enhancer binding protein (C/EBP), epsilon
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CIITA
|
class II, major histocompatibility complex, transactivator
|
|
CRYAB
|
crystallin, alpha B
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DES
|
desmin
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DMD
|
dystrophin
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DOLK
|
dolichol kinase
|
|
DSG2
|
desmoglein 2
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELANE
|
elastase, neutrophil expressed
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FAS
|
Fas cell surface death receptor
|
|
FASLG
|
Fas ligand (TNF superfamily, member 6)
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FHL2
|
four and a half LIM domains 2
|
|
FKTN
|
fukutin
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FTCD
|
formimidoyltransferase cyclodeaminase
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
GFI1
|
growth factor independent 1 transcription repressor
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GSS
|
glutathione synthetase
|
|
HAX1
|
HCLS1 associated protein X-1
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
ICOS
|
inducible T-cell co-stimulator
|
|
IGHM
|
immunoglobulin heavy constant mu
|
|
IGLL1
|
immunoglobulin lambda-like polypeptide 1
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
IRAK4
|
interleukin-1 receptor-associated kinase 4
|
|
JAGN1
|
jagunal homolog 1 (Drosophila)
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
LAMA4
|
laminin, alpha 4
|
|
LAMTOR2
|
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
|
|
LBR
|
lamin B receptor
|
|
LDB3
|
LIM domain binding 3
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LRRC8A
|
leucine rich repeat containing 8 family, member A
|
|
LYST
|
lysosomal trafficking regulator
|
|
MMAA
|
methylmalonic aciduria (cobalamin deficiency) cblA type
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MUT
|
methylmalonyl CoA mutase
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYPN
|
myopalladin
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
NEXN
|
nexilin (F actin binding protein)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PGM3
|
phosphoglucomutase 3
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PLN
|
phospholamban
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PRDM16
|
PR domain containing 16
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAC2
|
ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RBM20
|
RNA binding motif protein 20
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFX5
|
regulatory factor X, 5 (influences HLA class II expression)
|
|
RFXANK
|
regulatory factor X-associated ankyrin-containing protein
|
|
RFXAP
|
regulatory factor X-associated protein
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RPS19
|
ribosomal protein S19
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SLC35A1
|
solute carrier family 35 (CMP-sialic acid transporter), member A1
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STK4
|
serine/threonine kinase 4
|
|
STX11
|
syntaxin 11
|
|
TAZ
|
tafazzin
|
|
TCAP
|
titin-cap
|
|
TCF3
|
transcription factor 3
|
|
TCN2
|
transcobalamin II
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMPO
|
thymopoietin
|
|
TNNC1
|
troponin C type 1 (slow)
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TTN
|
titin
|
|
TXNRD2
|
thioredoxin reductase 2
|
|
UNC13D
|
unc-13 homolog D (C. elegans)
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VCL
|
vinculin
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS45
|
vacuolar protein sorting 45 homolog (S. cerevisiae)
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
ZBTB24
|
zinc finger and BTB domain containing 24
|
