| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
AHI1
|
Abelson helper integration site 1
|
|
ALG2
|
ALG2, alpha-1,3/1,6-mannosyltransferase
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALX3
|
ALX homeobox 3
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL3
|
ADP-ribosylation factor-like 3
|
|
ARMC9
|
armadillo repeat containing 9
|
|
ATP6V1A
|
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GLCT
|
beta 3-glucosyltransferase
|
|
B3GNT1
|
|
|
B9D1
|
B9 protein domain 1
|
|
BCOR
|
BCL6 corepressor
|
|
BMP4
|
bone morphogenetic protein 4
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CDON
|
cell adhesion associated, oncogene regulated
|
|
CENPF
|
centromere protein F, 350/400kDa
|
|
CEP104
|
centrosomal protein 104kDa
|
|
CEP120
|
centrosomal protein 120kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHN1
|
chimerin 1
|
|
COL25A1
|
collagen, type XXV, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYBA4
|
crystallin, beta A4
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DACT1
|
dishevelled-binding antagonist of beta-catenin 1
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DISP1
|
dispatched homolog 1 (Drosophila)
|
|
DLL1
|
delta-like 1 (Drosophila)
|
|
ERF
|
Ets2 repressor factor
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLI1
|
Fli-1 proto-oncogene, ETS transcription factor
|
|
FLNA
|
filamin A, alpha
|
|
FOXH1
|
forkhead box H1
|
|
FZD5
|
frizzled class receptor 5
|
|
GAS1
|
growth arrest-specific 1
|
|
GDF3
|
growth differentiation factor 3
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GLI2
|
GLI family zinc finger 2
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
HCCS
|
holocytochrome c synthase
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KIAA0556
|
KIAA0556
|
|
KIAA0586
|
KIAA0586
|
|
KIFBP
|
kinesin family binding protein
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LARGE
|
like-glycosyltransferase
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MPDZ
|
multiple PDZ domain protein
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NDUFB11
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
|
|
NELFA
|
negative elongation factor complex member A
|
|
NODAL
|
nodal growth differentiation factor
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD2
|
nuclear receptor binding SET domain protein 2
|
|
PAX6
|
paired box 6
|
|
PIBF1
|
progesterone immunomodulatory binding factor 1
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POGZ
|
pogo transposable element with ZNF domain
|
|
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)
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
RB1
|
retinoblastoma 1
|
|
RBP4
|
retinol binding protein 4, plasma
|
|
ROR1
|
receptor tyrosine kinase-like orphan receptor 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RSPO2
|
R-spondin 2
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL2
|
spalt-like transcription factor 2
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SHH
|
sonic hedgehog
|
|
SIN3A
|
SIN3 transcription regulator family member A
|
|
SIX3
|
SIX homeobox 3
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMO
|
smoothened, frizzled class receptor
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBX22
|
T-box 22
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TDGF1
|
teratocarcinoma-derived growth factor 1
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGIF1
|
TGFB-induced factor homeobox 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WASHC5
|
WASH complex subunit 5
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
YAP1
|
Yes-associated protein 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZIC2
|
Zic family member 2
|
|
ZNF423
|
zinc finger protein 423
|
