| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADSL
|
adenylosuccinate lyase
|
|
AGA
|
aspartylglucosaminidase
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCR
|
breakpoint cluster region
|
|
BMP2
|
bone morphogenetic protein 2
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCND2
|
cyclin D2
|
|
CD96
|
CD96 molecule
|
|
CDC6
|
cell division cycle 6
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDT1
|
chromatin licensing and DNA replication factor 1
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DOK7
|
docking protein 7
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
ELN
|
elastin
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GBA
|
glucosidase, beta, acid
|
|
GLB1
|
galactosidase, beta 1
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GSC
|
goosecoid homeobox
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC6
|
histone deacetylase 6
|
|
HDAC8
|
histone deacetylase 8
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INSR
|
insulin receptor
|
|
IRX5
|
iroquois homeobox 5
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
LARP7
|
La ribonucleoprotein domain family, member 7
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NALCN
|
sodium leak channel, non selective
|
|
NOTCH2
|
notch 2
|
|
NRXN1
|
neurexin 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OCA2
|
oculocutaneous albinism II
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
ORC4
|
origin recognition complex, subunit 4
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAX3
|
paired box 3
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PLCB4
|
phospholipase C, beta 4
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRRX1
|
paired related homeobox 1
|
|
PTCH1
|
patched 1
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAI1
|
retinoic acid induced 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SATB2
|
SATB homeobox 2
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPT9
|
septin 9
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SKI
|
SKI proto-oncogene
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SP7
|
Sp7 transcription factor
|
|
SPEG
|
SPEG complex locus
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
SULF1
|
sulfatase 1
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCF4
|
transcription factor 4
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM70
|
transmembrane protein 70
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TP63
|
tumor protein p63
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
