| Symbol |
Name |
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AIRE
|
autoimmune regulator
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
AMELX
|
amelogenin, X-linked
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRIP
|
ATR interacting protein
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
C4ORF26
|
chromosome 4 open reading frame 26
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CDH23
|
cadherin-related 23
|
|
CENPJ
|
centromere protein J
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CLDN1
|
claudin 1
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CNNM4
|
cyclin and CBS domain divalent metal cation transport mediator 4
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CREBBP
|
CREB binding protein
|
|
CUL7
|
cullin 7
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DLX3
|
distal-less homeobox 3
|
|
ELN
|
elastin
|
|
ENAM
|
enamelin
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAM83H
|
family with sequence similarity 83, member H
|
|
FERMT1
|
fermitin family member 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNB
|
filamin B, beta
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GNAS
|
GNAS complex locus
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HCCS
|
holocytochrome c synthase
|
|
HIRA
|
histone cell cycle regulator
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IFT122
|
intraflagellar transport 122
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGB4
|
integrin, beta 4
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KL
|
klotho
|
|
KLK4
|
kallikrein-related peptidase 4
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MMP20
|
matrix metallopeptidase 20
|
|
MYO7A
|
myosin VIIA
|
|
NF1
|
neurofibromin 1
|
|
OBSL1
|
obscurin-like 1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PCDH15
|
protocadherin-related 15
|
|
PCNT
|
pericentrin
|
|
PDZD7
|
PDZ domain containing 7
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PLEC
|
plectin
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PTCH1
|
patched 1
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PVRL4
|
poliovirus receptor-related 4
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SLC24A4
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TMEM165
|
transmembrane protein 165
|
|
TP63
|
tumor protein p63
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WDR72
|
WD repeat domain 72
|
