| Symbol |
Name |
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
ALX4
|
ALX homeobox 4
|
|
ANKRD26
|
ankyrin repeat domain 26
|
|
ARX
|
aristaless related homeobox
|
|
AXIN2
|
axin 2
|
|
BAP1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
CATSPER1
|
cation channel, sperm associated 1
|
|
CC2D1A
|
coiled-coil and C2 domain containing 1A
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDH23
|
cadherin-related 23
|
|
CDK5R1
|
cyclin-dependent kinase 5, regulatory subunit 1 (p35)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CFC1
|
cripto, FRL-1, cryptic family 1
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CKAP4
|
cytoskeleton-associated protein 4
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
COCH
|
cochlin
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL4A6
|
collagen, type IV, alpha 6
|
|
COX2
|
|
|
CRISPLD1
|
cysteine-rich secretory protein LCCL domain containing 1
|
|
CRISPLD2
|
cysteine-rich secretory protein LCCL domain containing 2
|
|
CRYM
|
crystallin, mu
|
|
CYP26A1
|
cytochrome P450, family 26, subfamily A, polypeptide 1
|
|
CYP26C1
|
cytochrome P450, family 26, subfamily C, polypeptide 1
|
|
DCX
|
doublecortin
|
|
DFNB45
|
deafness, autosomal recessive 45
|
|
DFNB55
|
deafness, autosomal recessive 55
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DHFR
|
dihydrofolate reductase
|
|
DKK1
|
dickkopf WNT signaling pathway inhibitor 1
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DLX1
|
distal-less homeobox 1
|
|
DMRT1
|
doublesex and mab-3 related transcription factor 1
|
|
DOLK
|
dolichol kinase
|
|
DSPP
|
dentin sialophosphoprotein
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EDA
|
ectodysplasin A
|
|
EDARADD
|
EDAR-associated death domain
|
|
EGFR
|
epidermal growth factor receptor
|
|
ELN
|
elastin
|
|
ESPN
|
espin
|
|
ESR1
|
estrogen receptor 1
|
|
ESRRB
|
estrogen-related receptor beta
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FBXO31
|
F-box protein 31
|
|
FBXW4
|
F-box and WD repeat domain containing 4
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF12
|
fibroblast growth factor 12
|
|
FGF18
|
fibroblast growth factor 18
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGF7
|
fibroblast growth factor 7
|
|
FGF9
|
fibroblast growth factor 9
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FH
|
fumarate hydratase
|
|
FKBP4
|
FK506 binding protein 4, 59kDa
|
|
FLCN
|
folliculin
|
|
FLNA
|
filamin A, alpha
|
|
FOXE1
|
forkhead box E1
|
|
FOXL2
|
forkhead box L2
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GABRB3
|
gamma-aminobutyric acid (GABA) A receptor, beta 3
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GATA4
|
GATA binding protein 4
|
|
GINGF3
|
gingival fibromatosis, hereditary, 3
|
|
GIPC3
|
GIPC PDZ domain containing family, member 3
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GJC1
|
gap junction protein, gamma 1, 45kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GREM1
|
gremlin 1, DAN family BMP antagonist
|
|
GRIK2
|
glutamate receptor, ionotropic, kainate 2
|
|
GRXCR1
|
glutaredoxin, cysteine rich 1
|
|
GTPBP3
|
GTP binding protein 3 (mitochondrial)
|
|
HAND1
|
heart and neural crest derivatives expressed 1
|
|
HAS2
|
hyaluronan synthase 2
|
|
HCFC1
|
host cell factor C1
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HGF
|
hepatocyte growth factor (hepapoietin A; scatter factor)
|
|
HOXA2
|
homeobox A2
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
ILDR1
|
immunoglobulin-like domain containing receptor 1
|
|
IRF6
|
interferon regulatory factor 6
|
|
IRS1
|
insulin receptor substrate 1
|
|
JAG2
|
jagged 2
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNQ4
|
potassium channel, voltage gated KQT-like subfamily Q, member 4
|
|
KIAA1033
|
KIAA1033
|
|
KLF8
|
Kruppel-like factor 8
|
|
LHFPL5
|
lipoma HMGIC fusion partner-like 5
|
|
LOXHD1
|
lipoxygenase homology domains 1
|
|
LRTOMT
|
leucine rich transmembrane and O-methyltransferase domain containing
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MAGT1
|
magnesium transporter 1
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MARVELD2
|
MARVEL domain containing 2
|
|
MCHR1
|
melanin-concentrating hormone receptor 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED23
|
mediator complex subunit 23
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
METTL23
|
methyltransferase like 23
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MICA
|
MHC class I polypeptide-related sequence A
|
|
MID1
|
midline 1
|
|
MIR140
|
microRNA 140
|
|
MMP9
|
matrix metallopeptidase 9
|
|
MRX82
|
mental retardation, X-linked 82
|
|
MSX1
|
msh homeobox 1
|
|
MT-TS1
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTO1
|
mitochondrial tRNA translation optimization 1
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MYF5
|
myogenic factor 5
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
MYO15A
|
myosin XVA
|
|
MYO1A
|
myosin IA
|
|
MYO3A
|
myosin IIIA
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
MYP1
|
myopia 1 (X-linked)
|
|
ND1
|
|
|
NEUROD1
|
neuronal differentiation 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NODAL
|
nodal growth differentiation factor
|
|
NOG
|
noggin
|
|
NOTCH1
|
notch 1
|
|
NRG3
|
neuregulin 3
|
|
OFC3
|
orofacial cleft 3
|
|
OMG
|
oligodendrocyte myelin glycoprotein
|
|
OTOA
|
otoancorin
|
|
OTOF
|
otoferlin
|
|
OTOG
|
otogelin
|
|
PAX9
|
paired box 9
|
|
PCDH15
|
protocadherin-related 15
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PHOX2B
|
paired-like homeobox 2b
|
|
POU3F4
|
POU class 3 homeobox 4
|
|
POU4F3
|
POU class 4 homeobox 3
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRSS12
|
protease, serine, 12 (neurotrypsin, motopsin)
|
|
PTCH1
|
patched 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPRQ
|
protein tyrosine phosphatase, receptor type, Q
|
|
PVR
|
poliovirus receptor
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PVRL2
|
poliovirus receptor-related 2 (herpesvirus entry mediator B)
|
|
RAC1
|
ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
|
|
RNR1
|
RNA, ribosomal cluster 1
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SERPINB6
|
serpin peptidase inhibitor, clade B (ovalbumin), member 6
|
|
SHH
|
sonic hedgehog
|
|
SIX3
|
SIX homeobox 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC17A8
|
solute carrier family 17 (vesicular glutamate transporter), member 8
|
|
SLC19A1
|
solute carrier family 19 (folate transporter), member 1
|
|
SLC24A5
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
|
|
SLC25A38
|
solute carrier family 25, member 38
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC26A5
|
solute carrier family 26 (anion exchanger), member 5
|
|
SOBP
|
sine oculis binding protein homolog (Drosophila)
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPATA16
|
spermatogenesis associated 16
|
|
STBMS1
|
Strabismus, susceptibility to, 1
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUMO1
|
small ubiquitin-like modifier 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL1Y
|
transducin (beta)-like 1, Y-linked
|
|
TBX1
|
T-box 1
|
|
TBX22
|
T-box 22
|
|
TCN2
|
transcobalamin II
|
|
TECR
|
trans-2,3-enoyl-CoA reductase
|
|
TECTA
|
tectorin alpha
|
|
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
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
TMC1
|
transmembrane channel-like 1
|
|
TMIE
|
transmembrane inner ear
|
|
TMPRSS3
|
transmembrane protease, serine 3
|
|
TNC
|
tenascin C
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPRN
|
taperin
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRIOBP
|
TRIO and F-actin binding protein
|
|
TRMU
|
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUSC3
|
tumor suppressor candidate 3
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAX1
|
ventral anterior homeobox 1
|
|
VCL
|
vinculin
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
ZFPM2
|
zinc finger protein, FOG family member 2
|
|
ZIC2
|
Zic family member 2
|
|
ZNF385B
|
zinc finger protein 385B
|
