| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AIRE
|
autoimmune regulator
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMH
|
anti-Mullerian hormone
|
|
AMHR2
|
anti-Mullerian hormone receptor, type II
|
|
ANOS1
|
anosmin 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
APC
|
adenomatous polyposis coli
|
|
AR
|
androgen receptor
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATM
|
ATM serine/threonine kinase
|
|
AXIN1
|
axin 1
|
|
AXIN2
|
axin 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAX
|
BCL2-associated X protein
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
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
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBX2
|
chromobox homolog 2
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CREBBP
|
CREB binding protein
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CXCR4
|
chemokine (C-X-C motif) receptor 4
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCC
|
DCC netrin 1 receptor
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHH
|
desert hedgehog
|
|
DIAPH2
|
diaphanous-related formin 2
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLL3
|
delta-like 3 (Drosophila)
|
|
DMRT1
|
doublesex and mab-3 related transcription factor 1
|
|
DMRT2
|
doublesex and mab-3 related transcription factor 2
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
ELN
|
elastin
|
|
EP300
|
E1A binding protein p300
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ESR1
|
estrogen receptor 1
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EWSR1
|
EWS RNA-binding protein 1
|
|
F10
|
coagulation factor X
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
FAM58A
|
family with sequence similarity 58, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF20
|
fibroblast growth factor 20
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FGG
|
fibrinogen gamma chain
|
|
FH
|
fumarate hydratase
|
|
FIGLA
|
folliculogenesis specific basic helix-loop-helix
|
|
FLCN
|
folliculin
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXL2
|
forkhead box L2
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FSHB
|
follicle stimulating hormone, beta polypeptide
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GFI1B
|
growth factor independent 1B transcription repressor
|
|
GHR
|
growth hormone receptor
|
|
GNAS
|
GNAS complex locus
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GP6
|
glycoprotein VI (platelet)
|
|
GP9
|
glycoprotein IX (platelet)
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
H6PD
|
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC8
|
histone deacetylase 8
|
|
HES7
|
hes family bHLH transcription factor 7
|
|
HESX1
|
HESX homeobox 1
|
|
HFE
|
hemochromatosis
|
|
HFM1
|
HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXA13
|
homeobox A13
|
|
HOXD13
|
homeobox D13
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IFT27
|
intraflagellar transport 27
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IL10RB
|
interleukin 10 receptor, beta
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
IL17RD
|
interleukin 17 receptor D
|
|
INSR
|
insulin receptor
|
|
IRF6
|
interferon regulatory factor 6
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGA8
|
integrin, alpha 8
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KLF6
|
Kruppel-like factor 6
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LFNG
|
LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
|
|
LHX1
|
LIM homeobox 1
|
|
LHX4
|
LIM homeobox 4
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRRFIP2
|
leucine rich repeat (in FLII) interacting protein 2
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAD1L1
|
MAD1 mitotic arrest deficient-like 1 (yeast)
|
|
MAP3K1
|
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
|
|
MCC
|
mutated in colorectal cancers
|
|
MCFD2
|
multiple coagulation factor deficiency 2
|
|
MESP2
|
mesoderm posterior basic helix-loop-helix transcription factor 2
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MSR1
|
macrophage scavenger receptor 1
|
|
MSX1
|
msh homeobox 1
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
NBEAL2
|
neurobeachin-like 2
|
|
NBN
|
nibrin
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOBOX
|
NOBOX oogenesis homeobox
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PDGFRL
|
platelet-derived growth factor receptor-like
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLG
|
plasminogen
|
|
PLIN1
|
perilipin 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
POF1B
|
premature ovarian failure, 1B
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRLR
|
prolactin receptor
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRTN3
|
proteinase 3
|
|
PSMC3IP
|
PSMC3 interacting protein
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN12
|
protein tyrosine phosphatase, non-receptor type 12
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTPRJ
|
protein tyrosine phosphatase, receptor type, J
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAD54B
|
RAD54 homolog B (S. cerevisiae)
|
|
RARB
|
retinoic acid receptor, beta
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RECQL4
|
RecQ protein-like 4
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RNASEL
|
ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
|
|
RNF216
|
ring finger protein 216
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD3
|
SMAD family member 3
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX18
|
SRY (sex determining region Y)-box 18
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRY
|
sex determining region Y
|
|
SSTR5
|
somatostatin receptor 5
|
|
STAG3
|
stromal antigen 3
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STK11
|
serine/threonine kinase 11
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TAC3
|
tachykinin 3
|
|
TACR3
|
tachykinin receptor 3
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX3
|
T-box 3
|
|
TBX6
|
T-box 6
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THOC6
|
THO complex 6
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM5
|
transmembrane protein 5
|
|
TNXB
|
tenascin XB
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRMT10A
|
tRNA methyltransferase 10 homolog A (S. cerevisiae)
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UNG
|
uracil-DNA glycosylase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VAMP7
|
vesicle-associated membrane protein 7
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT4
|
wingless-type MMTV integration site family, member 4
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
