| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACTB
|
actin, beta
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
ADSL
|
adenylosuccinate lyase
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
ALX3
|
ALX homeobox 3
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARX
|
aristaless related homeobox
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GNT1
|
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COLEC11
|
collectin sub-family member 11
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
DDX59
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EFNB1
|
ephrin-B1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FBN1
|
fibrillin 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF20
|
fibroblast growth factor 20
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNB
|
filamin B, beta
|
|
FNBP4
|
formin binding protein 4
|
|
FOXC2
|
forkhead box C2
|
|
FOXG1
|
forkhead box G1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GBA
|
glucosidase, beta, acid
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GRHL3
|
grainyhead-like 3 (Drosophila)
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HOXD13
|
homeobox D13
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IFT80
|
intraflagellar transport 80
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
IRF6
|
interferon regulatory factor 6
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA8
|
integrin, alpha 8
|
|
JUP
|
junction plakoglobin
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA2022
|
KIAA2022
|
|
KIF11
|
kinesin family member 11
|
|
KIF7
|
kinesin family member 7
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LARGE
|
like-glycosyltransferase
|
|
LEMD3
|
LEM domain containing 3
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MID1
|
midline 1
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MSX1
|
msh homeobox 1
|
|
MSX2
|
msh homeobox 2
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NALCN
|
sodium leak channel, non selective
|
|
NBN
|
nibrin
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEK1
|
NIMA-related kinase 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOG
|
noggin
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PAX3
|
paired box 3
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PHF8
|
PHD finger protein 8
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIGO
|
phosphatidylinositol glycan anchor biosynthesis, class O
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PITX2
|
paired-like homeodomain 2
|
|
PMM2
|
phosphomannomutase 2
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PROKR2
|
prokineticin receptor 2
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RET
|
ret proto-oncogene
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RNF135
|
ring finger protein 135
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPL5
|
ribosomal protein L5
|
|
RPS19
|
ribosomal protein S19
|
|
SC5D
|
sterol-C5-desaturase
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETD5
|
SET domain containing 5
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SHH
|
sonic hedgehog
|
|
SIX3
|
SIX homeobox 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNX3
|
sorting nexin 3
|
|
SPECC1L
|
sperm antigen with calponin homology and coiled-coil domains 1-like
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SUMO1
|
small ubiquitin-like modifier 1
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGIF1
|
TGFB-induced factor homeobox 1
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM5
|
transmembrane protein 5
|
|
TP63
|
tumor protein p63
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
VAX1
|
ventral anterior homeobox 1
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
YAP1
|
Yes-associated protein 1
|
|
ZBTB18
|
zinc finger and BTB domain containing 18
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
