| Symbol |
Name |
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANOS1
|
anosmin 1
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRIP
|
ATR interacting protein
|
|
AXIN2
|
axin 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCOR
|
BCL6 corepressor
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CENPJ
|
centromere protein J
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLDN1
|
claudin 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
CTSC
|
cathepsin C
|
|
CTSK
|
cathepsin K
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DPP6
|
dipeptidyl-peptidase 6
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDARADD
|
EDAR-associated death domain
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
ELN
|
elastin
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FOXC1
|
forkhead box C1
|
|
GHR
|
growth hormone receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLI2
|
GLI family zinc finger 2
|
|
GRHL3
|
grainyhead-like 3 (Drosophila)
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IRF6
|
interferon regulatory factor 6
|
|
IRX5
|
iroquois homeobox 5
|
|
ITGB4
|
integrin, beta 4
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KISS1R
|
KISS1 receptor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LEMD3
|
LEM domain containing 3
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LTBP3
|
latent transforming growth factor beta binding protein 3
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MSX1
|
msh homeobox 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NELFA
|
negative elongation factor complex member A
|
|
NFKBIA
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAX9
|
paired box 9
|
|
PCNT
|
pericentrin
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM28
|
RNA binding motif protein 28
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SATB2
|
SATB homeobox 2
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
TACR3
|
tachykinin receptor 3
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX3
|
T-box 3
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TGFA
|
transforming growth factor, alpha
|
|
TP63
|
tumor protein p63
|
|
TRAF6
|
TNF receptor-associated factor 6, E3 ubiquitin protein ligase
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRPV3
|
transient receptor potential cation channel, subfamily V, member 3
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
