| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATR
|
ATR serine/threonine kinase
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CD96
|
CD96 molecule
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
CREBBP
|
CREB binding protein
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CTNND2
|
catenin (cadherin-associated protein), delta 2
|
|
CTSC
|
cathepsin C
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DOK7
|
docking protein 7
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DSP
|
desmoplakin
|
|
DYM
|
dymeclin
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
FBN1
|
fibrillin 1
|
|
FERMT1
|
fermitin family member 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF9
|
fibroblast growth factor 9
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FMR1
|
fragile X mental retardation 1
|
|
FNBP4
|
formin binding protein 4
|
|
G6PC3
|
glucose 6 phosphatase, catalytic, 3
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GDF5
|
growth differentiation factor 5
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GPC3
|
glypican 3
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT80
|
intraflagellar transport 80
|
|
IHH
|
indian hedgehog
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
ITGB4
|
integrin, beta 4
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT1
|
keratin 1, type II
|
|
KRT10
|
keratin 10, type I
|
|
KRT14
|
keratin 14, type I
|
|
KRT16
|
keratin 16, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT5
|
keratin 5, type II
|
|
KRT9
|
keratin 9, type I
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LBR
|
lamin B receptor
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MED12
|
mediator complex subunit 12
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOG
|
noggin
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
PEPD
|
peptidase D
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PLEC
|
plectin
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBM10
|
RNA binding motif protein 10
|
|
RECQL4
|
RecQ protein-like 4
|
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA5A
|
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
|
|
SERPINB7
|
serpin peptidase inhibitor, clade B (ovalbumin), member 7
|
|
SETBP1
|
SET binding protein 1
|
|
SIX6
|
SIX homeobox 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMARCE1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SMS
|
spermine synthase
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX18
|
SRY (sex determining region Y)-box 18
|
|
SPECC1L
|
sperm antigen with calponin homology and coiled-coil domains 1-like
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCF12
|
transcription factor 12
|
|
TCF4
|
transcription factor 4
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TNNI2
|
troponin I type 2 (skeletal, fast)
|
|
TNNT3
|
troponin T type 3 (skeletal, fast)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDR81
|
WD repeat domain 81
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
XYLT1
|
xylosyltransferase I
|
|
ZNF469
|
zinc finger protein 469
|
