| Symbol |
Name |
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B3GNT1
|
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
BMPER
|
BMP binding endothelial regulator
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CD96
|
CD96 molecule
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHN1
|
chimerin 1
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
COG1
|
component of oligomeric golgi complex 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DES
|
desmin
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOK7
|
docking protein 7
|
|
DPYS
|
dihydropyrimidinase
|
|
DSE
|
dermatan sulfate epimerase
|
|
DST
|
dystonin
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EIF4A3
|
eukaryotic translation initiation factor 4A3
|
|
EMG1
|
EMG1 N1-specific pseudouridine methyltransferase
|
|
EOGT
|
EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FBXO7
|
F-box protein 7
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FNBP4
|
formin binding protein 4
|
|
FOXG1
|
forkhead box G1
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
GAN
|
gigaxonin
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GDF5
|
growth differentiation factor 5
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
GSC
|
goosecoid homeobox
|
|
GUSB
|
glucuronidase, beta
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC8
|
histone deacetylase 8
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
IHH
|
indian hedgehog
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
IRF6
|
interferon regulatory factor 6
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA8
|
integrin, alpha 8
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LARGE
|
like-glycosyltransferase
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MTMR2
|
myotubularin related protein 2
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYH8
|
myosin, heavy chain 8, skeletal muscle, perinatal
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEK8
|
NIMA-related kinase 8
|
|
NELFA
|
negative elongation factor complex member A
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOTCH1
|
notch 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
PAX2
|
paired box 2
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PITX1
|
paired-like homeodomain 1
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PMP22
|
peripheral myelin protein 22
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBM10
|
RNA binding motif protein 10
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RBPJ
|
recombination signal binding protein for immunoglobulin kappa J region
|
|
RECQL4
|
RecQ protein-like 4
|
|
RET
|
ret proto-oncogene
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SATB2
|
SATB homeobox 2
|
|
SBF2
|
SET binding factor 2
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETBP1
|
SET binding protein 1
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SKI
|
SKI proto-oncogene
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SMS
|
spermine synthase
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
TAZ
|
tafazzin
|
|
TBX15
|
T-box 15
|
|
TBX4
|
T-box 4
|
|
TCTN2
|
tectonic family member 2
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZFYVE27
|
zinc finger, FYVE domain containing 27
|
|
ZSWIM6
|
zinc finger, SWIM-type containing 6
|
