| Symbol |
Name |
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
AVP
|
arginine vasopressin
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BCOR
|
BCL6 corepressor
|
|
BMP4
|
bone morphogenetic protein 4
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDK5RAP2
|
CDK5 regulatory subunit associated protein 2
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP55
|
centrosomal protein 55kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FOXC1
|
forkhead box C1
|
|
FOXE3
|
forkhead box E3
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GDF6
|
growth differentiation factor 6
|
|
GH1
|
growth hormone 1
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GLI2
|
GLI family zinc finger 2
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HCCS
|
holocytochrome c synthase
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KIF11
|
kinesin family member 11
|
|
KIF7
|
kinesin family member 7
|
|
KITLG
|
KIT ligand
|
|
LARGE
|
like-glycosyltransferase
|
|
LHX2
|
LIM homeobox 2
|
|
MAB21L2
|
mab-21-like 2 (C. elegans)
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFB11
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAX6
|
paired box 6
|
|
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)
|
|
RARB
|
retinoic acid receptor, beta
|
|
RAX
|
retina and anterior neural fold homeobox
|
|
RBM24
|
RNA binding motif protein 24
|
|
RBP4
|
retinol binding protein 4, plasma
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
TCF3
|
transcription factor 3
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN2
|
tectonic family member 2
|
|
TEX11
|
testis expressed 11
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TMEM107
|
transmembrane protein 107
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TMX3
|
thioredoxin-related transmembrane protein 3
|
|
VAX1
|
ventral anterior homeobox 1
|
|
VAX2
|
ventral anterior homeobox 2
|
|
VSX2
|
visual system homeobox 2
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
YAP1
|
Yes-associated protein 1
|
