| Symbol |
Name |
|
ANOS1
|
anosmin 1
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ARX
|
aristaless related homeobox
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
CD96
|
CD96 molecule
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
ELN
|
elastin
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
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
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
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
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
GATA3
|
GATA binding protein 3
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GLI3
|
GLI family zinc finger 3
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HESX1
|
HESX homeobox 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXD13
|
homeobox D13
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
IL17RD
|
interleukin 17 receptor D
|
|
INSL3
|
insulin-like 3 (Leydig cell)
|
|
ITGA8
|
integrin, alpha 8
|
|
JAG1
|
jagged 1
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KISS1R
|
KISS1 receptor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LEMD3
|
LEM domain containing 3
|
|
LHX1
|
LIM homeobox 1
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCPH1
|
microcephalin 1
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MUC1
|
mucin 1, cell surface associated
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX1
|
paired box 1
|
|
PAX2
|
paired box 2
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PKHD1
|
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD51C
|
RAD51 paralog C
|
|
RAI1
|
retinoic acid induced 1
|
|
RARB
|
retinoic acid receptor, beta
|
|
REN
|
renin
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIPK4
|
receptor-interacting serine-threonine kinase 4
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROBO2
|
roundabout, axon guidance receptor, homolog 2 (Drosophila)
|
|
RPL26
|
ribosomal protein L26
|
|
RXFP2
|
relaxin/insulin-like family peptide receptor 2
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SHH
|
sonic hedgehog
|
|
SIX1
|
SIX homeobox 1
|
|
SIX5
|
SIX homeobox 5
|
|
SIX6
|
SIX homeobox 6
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
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
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
TACR3
|
tachykinin receptor 3
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX3
|
T-box 3
|
|
TBX6
|
T-box 6
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TP63
|
tumor protein p63
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
WDR11
|
WD repeat domain 11
|
|
WDR19
|
WD repeat domain 19
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT4
|
wingless-type MMTV integration site family, member 4
|
