| Symbol |
Name |
|
ACVR1
|
activin A receptor, type I
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ALX3
|
ALX homeobox 3
|
|
AMELX
|
amelogenin, X-linked
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ASPH
|
aspartate beta-hydroxylase
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCOR
|
BCL6 corepressor
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CA2
|
carbonic anhydrase II
|
|
CBS
|
cystathionine-beta-synthase
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
CREBBP
|
CREB binding protein
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DLX3
|
distal-less homeobox 3
|
|
DSE
|
dermatan sulfate epimerase
|
|
ELN
|
elastin
|
|
ENAM
|
enamelin
|
|
EP300
|
E1A binding protein p300
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FERMT1
|
fermitin family member 1
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FLNA
|
filamin A, alpha
|
|
FOXC1
|
forkhead box C1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GLB1
|
galactosidase, beta 1
|
|
GLI2
|
GLI family zinc finger 2
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GNAS
|
GNAS complex locus
|
|
GPC3
|
glypican 3
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HDAC8
|
histone deacetylase 8
|
|
HDAC9
|
histone deacetylase 9
|
|
IDS
|
iduronate 2-sulfatase
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
IRX5
|
iroquois homeobox 5
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
LBR
|
lamin B receptor
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP20
|
matrix metallopeptidase 20
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOTCH2
|
notch 2
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAX1
|
paired box 1
|
|
PAX6
|
paired box 6
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
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
|
|
PLCB4
|
phospholipase C, beta 4
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAI1
|
retinoic acid induced 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SACK1H
|
scaffolding CK1 anchoring protein H
|
|
SATB2
|
SATB homeobox 2
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETD5
|
SET domain containing 5
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SMAD3
|
SMAD family member 3
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMS
|
spermine synthase
|
|
SOBP
|
sine oculis binding protein homolog (Drosophila)
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOST
|
sclerostin
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCF4
|
transcription factor 4
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
THOC6
|
THO complex 6
|
|
TP63
|
tumor protein p63
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UBB
|
ubiquitin B
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
VSX1
|
visual system homeobox 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR35
|
WD repeat domain 35
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
