| Symbol |
Name |
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADAMTS18
|
ADAM metallopeptidase with thrombospondin type 1 motif, 18
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ATOH7
|
atonal homolog 7 (Drosophila)
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GNT1
|
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BEST1
|
bestrophin 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHRDL1
|
chordin-like 1
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYBA4
|
crystallin, beta A4
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ELN
|
elastin
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF3
|
fibroblast growth factor 3
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FOXC1
|
forkhead box C1
|
|
FOXL2
|
forkhead box L2
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC8
|
histone deacetylase 8
|
|
HDAC9
|
histone deacetylase 9
|
|
HMGB3
|
high mobility group box 3
|
|
HMX1
|
H6 family homeobox 1
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
JAG1
|
jagged 1
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIF1BP
|
KIF1 binding protein
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LARGE
|
like-glycosyltransferase
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MIR184
|
microRNA 184
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NELFA
|
negative elongation factor complex member A
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAX6
|
paired box 6
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
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
|
|
PRDM5
|
PR domain containing 5
|
|
PRSS56
|
protease, serine, 56
|
|
PXDN
|
peroxidasin
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RBP4
|
retinol binding protein 4, plasma
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SC5D
|
sterol-C5-desaturase
|
|
SETBP1
|
SET binding protein 1
|
|
SLC16A12
|
solute carrier family 16, member 12
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX15
|
T-box 15
|
|
TBX22
|
T-box 22
|
|
TCTN2
|
tectonic family member 2
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
