| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ALX1
|
ALX homeobox 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
APCDD1
|
adenomatosis polyposis coli down-regulated 1
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BMP1
|
bone morphogenetic protein 1
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
CAMKMT
|
calmodulin-lysine N-methyltransferase
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CLDN1
|
claudin 1
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
CREBBP
|
CREB binding protein
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DOLK
|
dolichol kinase
|
|
DSC3
|
desmocollin 3
|
|
DSG4
|
desmoglein 4
|
|
DSP
|
desmoplakin
|
|
DUX4
|
double homeobox 4
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EP300
|
E1A binding protein p300
|
|
FBN1
|
fibrillin 1
|
|
FGF5
|
fibroblast growth factor 5
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FOXC2
|
forkhead box C2
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FRG1
|
FSHD region gene 1
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HDAC8
|
histone deacetylase 8
|
|
HR
|
hair growth associated
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT85
|
keratin 85, type II
|
|
LIPH
|
lipase, member H
|
|
LMNA
|
lamin A/C
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLPH
|
melanophilin
|
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
|
NF1
|
neurofibromin 1
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH2
|
notch 2
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
PAX3
|
paired box 3
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PPM1B
|
protein phosphatase, Mg2+/Mn2+ dependent, 1B
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PVRL4
|
poliovirus receptor-related 4
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPL21
|
ribosomal protein L21
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
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
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
SNRPE
|
small nuclear ribonucleoprotein polypeptide E
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX18
|
SRY (sex determining region Y)-box 18
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TP63
|
tumor protein p63
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
UROS
|
uroporphyrinogen III synthase
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
XYLT1
|
xylosyltransferase I
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
