| Symbol |
Name |
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
ADSL
|
adenylosuccinate lyase
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
AMMECR1
|
Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARX
|
aristaless related homeobox
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BCR
|
breakpoint cluster region
|
|
BMP1
|
bone morphogenetic protein 1
|
|
CD96
|
CD96 molecule
|
|
CHL1
|
cell adhesion molecule L1-like
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CITED2
|
Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CNTN4
|
contactin 4
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
CRBN
|
cereblon
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FBN1
|
fibrillin 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FMR1
|
fragile X mental retardation 1
|
|
GATA4
|
GATA binding protein 4
|
|
GATA5
|
GATA binding protein 5
|
|
GATA6
|
GATA binding protein 6
|
|
GDF1
|
growth differentiation factor 1
|
|
GJA5
|
gap junction protein, alpha 5, 40kDa
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IRF6
|
interferon regulatory factor 6
|
|
JAG1
|
jagged 1
|
|
KCNE5
|
potassium channel, voltage gated subfamily E regulatory beta subunit 5
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIF11
|
kinesin family member 11
|
|
KIF7
|
kinesin family member 7
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
LEMD3
|
LEM domain containing 3
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNA
|
lamin A/C
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MCPH1
|
microcephalin 1
|
|
MED12
|
mediator complex subunit 12
|
|
METTL23
|
methyltransferase like 23
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MID1
|
midline 1
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
NALCN
|
sodium leak channel, non selective
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NF1
|
neurofibromin 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NOG
|
noggin
|
|
NOTCH2
|
notch 2
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PITX2
|
paired-like homeodomain 2
|
|
PMM2
|
phosphomannomutase 2
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RNF135
|
ring finger protein 135
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SATB2
|
SATB homeobox 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SETD5
|
SET domain containing 5
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
TBCE
|
tubulin folding cofactor E
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
WDR19
|
WD repeat domain 19
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
ZBTB16
|
zinc finger and BTB domain containing 16
|
|
ZBTB18
|
zinc finger and BTB domain containing 18
|
|
ZFPM2
|
zinc finger protein, FOG family member 2
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
