| Symbol |
Name |
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ALX4
|
ALX homeobox 4
|
|
AMELX
|
amelogenin, X-linked
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
AXIN2
|
axin 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
CA2
|
carbonic anhydrase II
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
CREBBP
|
CREB binding protein
|
|
CTSK
|
cathepsin K
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
DLX3
|
distal-less homeobox 3
|
|
EDA
|
ectodysplasin A
|
|
EDA2R
|
ectodysplasin A2 receptor
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDARADD
|
EDAR-associated death domain
|
|
ELN
|
elastin
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLNA
|
filamin A, alpha
|
|
FOXC1
|
forkhead box C1
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GHR
|
growth hormone receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT43
|
intraflagellar transport 43
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IRF6
|
interferon regulatory factor 6
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KL
|
klotho
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LIMK1
|
LIM domain kinase 1
|
|
LTBP3
|
latent transforming growth factor beta binding protein 3
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MCOLN1
|
mucolipin 1
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MSX1
|
msh homeobox 1
|
|
MYO7A
|
myosin VIIA
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NFKBIA
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
PAX9
|
paired box 9
|
|
PCNT
|
pericentrin
|
|
PDZD7
|
PDZ domain containing 7
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PVRL4
|
poliovirus receptor-related 4
|
|
RAI1
|
retinoic acid induced 1
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SATB2
|
SATB homeobox 2
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMOC2
|
SPARC related modular calcium binding 2
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX22
|
T-box 22
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFA
|
transforming growth factor, alpha
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TNXB
|
tenascin XB
|
|
TP63
|
tumor protein p63
|
|
TRAF6
|
TNF receptor-associated factor 6, E3 ubiquitin protein ligase
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
ZDHHC15
|
zinc finger, DHHC-type containing 15
|
