| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
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
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CTSK
|
cathepsin K
|
|
CUL4B
|
cullin 4B
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOLK
|
dolichol kinase
|
|
DYM
|
dymeclin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXG1
|
forkhead box G1
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GDF5
|
growth differentiation factor 5
|
|
GHR
|
growth hormone receptor
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GNAS
|
GNAS complex locus
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC6
|
histone deacetylase 6
|
|
HDAC8
|
histone deacetylase 8
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT80
|
intraflagellar transport 80
|
|
IHH
|
indian hedgehog
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMBR1
|
limb development membrane protein 1
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LZTFL1
|
leucine zipper transcription factor-like 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
|
|
MGP
|
matrix Gla protein
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NGLY1
|
N-glycanase 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOG
|
noggin
|
|
NOTCH1
|
notch 1
|
|
NOTCH2
|
notch 2
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NTNG1
|
netrin G1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PHF6
|
PHD finger protein 6
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
POC1A
|
POC1 centriolar protein A
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTHLH
|
parathyroid hormone-like hormone
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB33B
|
RAB33B, member RAS oncogene family
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RECQL4
|
RecQ protein-like 4
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SETBP1
|
SET binding protein 1
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SHOX
|
short stature homeobox
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SULF1
|
sulfatase 1
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBX22
|
T-box 22
|
|
TBX3
|
T-box 3
|
|
TP63
|
tumor protein p63
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
WDR81
|
WD repeat domain 81
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
ZDHHC15
|
zinc finger, DHHC-type containing 15
|
