| 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
|
|
ADAMTSL4
|
ADAMTS-like 4
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AHI1
|
Abelson helper integration site 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
|
ALG2
|
ALG2, alpha-1,3/1,6-mannosyltransferase
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALX1
|
ALX homeobox 1
|
|
ALX3
|
ALX homeobox 3
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ATOH7
|
atonal homolog 7 (Drosophila)
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
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
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHN1
|
chimerin 1
|
|
CLDN19
|
claudin 19
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CREBBP
|
CREB binding protein
|
|
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
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
ERF
|
Ets2 repressor factor
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FBN1
|
fibrillin 1
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HCCS
|
holocytochrome c synthase
|
|
HHAT
|
hedgehog acyltransferase
|
|
HMX1
|
H6 family homeobox 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF7
|
kinesin family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
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
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NELFA
|
negative elongation factor complex member A
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOTCH2
|
notch 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAX2
|
paired box 2
|
|
PAX6
|
paired box 6
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
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
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RB1
|
retinoblastoma 1
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RS1
|
retinoschisin 1
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL2
|
spalt-like transcription factor 2
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SHH
|
sonic hedgehog
|
|
SIX6
|
SIX homeobox 6
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SPECC1L
|
sperm antigen with calponin homology and coiled-coil domains 1-like
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBX22
|
T-box 22
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TMEM114
|
transmembrane protein 114
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VSX2
|
visual system homeobox 2
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
YAP1
|
Yes-associated protein 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZNF423
|
zinc finger protein 423
|
