| Symbol |
Name |
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCA5
|
ATP-binding cassette, sub-family A (ABC1), member 5
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADA
|
adenosine deaminase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALX1
|
ALX homeobox 1
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
APCDD1
|
adenomatosis polyposis coli down-regulated 1
|
|
APTX
|
aprataxin
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARX
|
aristaless related homeobox
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B9D1
|
B9 protein domain 1
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BBIP1
|
BBSome interacting protein 1
|
|
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
|
|
BCR
|
breakpoint cluster region
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDON
|
cell adhesion associated, oncogene regulated
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CHSY1
|
chondroitin sulfate synthase 1
|
|
CLDN1
|
claudin 1
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COLEC11
|
collectin sub-family member 11
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CUL7
|
cullin 7
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DOCK7
|
dedicator of cytokinesis 7
|
|
DOLK
|
dolichol kinase
|
|
DSC3
|
desmocollin 3
|
|
DSG4
|
desmoglein 4
|
|
DSP
|
desmoplakin
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
EDA
|
ectodysplasin A
|
|
EDA2R
|
ectodysplasin A2 receptor
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
EPS8L3
|
EPS8-like 3
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FBXO31
|
F-box protein 31
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FNBP4
|
formin binding protein 4
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HR
|
hair growth associated
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT27
|
intraflagellar transport 27
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
IRX5
|
iroquois homeobox 5
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF7
|
kinesin family member 7
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT17
|
keratin 17, type I
|
|
KRT71
|
keratin 71, type II
|
|
KRT74
|
keratin 74, type II
|
|
KRT81
|
keratin 81, type II
|
|
KRT83
|
keratin 83, type II
|
|
KRT85
|
keratin 85, type II
|
|
KRT86
|
keratin 86, type II
|
|
LEMD3
|
LEM domain containing 3
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIPH
|
lipase, member H
|
|
LIPN
|
lipase, family member N
|
|
LMNA
|
lamin A/C
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
NELFA
|
negative elongation factor complex member A
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH2
|
notch 2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OBSL1
|
obscurin-like 1
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAX3
|
paired box 3
|
|
PCNT
|
pericentrin
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PHF6
|
PHD finger protein 6
|
|
PHF8
|
PHD finger protein 8
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PKP1
|
plakophilin 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRDM16
|
PR domain containing 16
|
|
PRRX1
|
paired related homeobox 1
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PVRL4
|
poliovirus receptor-related 4
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RAI1
|
retinoic acid induced 1
|
|
RECQL4
|
RecQ protein-like 4
|
|
RET
|
ret proto-oncogene
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPL21
|
ribosomal protein L21
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SETD5
|
SET domain containing 5
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SKI
|
SKI proto-oncogene
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
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
|
|
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
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNRPE
|
small nuclear ribonucleoprotein polypeptide E
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX18
|
SRY (sex determining region Y)-box 18
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
ST14
|
suppression of tumorigenicity 14 (colon carcinoma)
|
|
SULF1
|
sulfatase 1
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SZT2
|
seizure threshold 2 homolog (mouse)
|
|
TBX2
|
T-box 2
|
|
TBX3
|
T-box 3
|
|
TBX4
|
T-box 4
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TGM1
|
transglutaminase 1
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TP63
|
tumor protein p63
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTI2
|
TELO2 interacting protein 2
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZIC2
|
Zic family member 2
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF423
|
zinc finger protein 423
|
