Symbol |
Name |
AGAP1
|
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
|
AIRE
|
autoimmune regulator
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
ANGPT2
|
angiopoietin 2
|
APAF1
|
apoptotic peptidase activating factor 1
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
BMP4
|
bone morphogenetic protein 4
|
CBS
|
cystathionine-beta-synthase
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
CEP41
|
centrosomal protein 41kDa
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
CLSTN1
|
calsyntenin 1
|
COL18A1
|
collagen, type XVIII, alpha 1
|
COL4A1
|
collagen, type IV, alpha 1
|
CSRP2BP
|
CSRP2 binding protein
|
EHD1
|
EH-domain containing 1
|
FGF10
|
fibroblast growth factor 10
|
FKRP
|
fukutin related protein
|
FZD4
|
frizzled class receptor 4
|
GAS1
|
growth arrest-specific 1
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
GSK3A
|
glycogen synthase kinase 3 alpha
|
ITGA6
|
integrin, alpha 6
|
LAMA1
|
laminin, alpha 1
|
LARGE
|
like-glycosyltransferase
|
LEF1
|
lymphoid enhancer-binding factor 1
|
LIM2
|
lens intrinsic membrane protein 2, 19kDa
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
MITF
|
microphthalmia-associated transcription factor
|
MSX2
|
msh homeobox 2
|
MYO10
|
myosin X
|
MYO7A
|
myosin VIIA
|
NDP
|
Norrie disease (pseudoglioma)
|
NOS2
|
nitric oxide synthase 2, inducible
|
NOTCH2
|
notch 2
|
NR2E1
|
nuclear receptor subfamily 2, group E, member 1
|
PAX6
|
paired box 6
|
PRKCZ
|
protein kinase C, zeta
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
PVRL3
|
poliovirus receptor-related 3
|
PXDN
|
peroxidasin
|
RARB
|
retinoic acid receptor, beta
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
RPL24
|
ribosomal protein L24
|
RXRA
|
retinoid X receptor, alpha
|
SIRT1
|
sirtuin 1
|
SPARC
|
secreted protein, acidic, cysteine-rich (osteonectin)
|
SPI1
|
Spi-1 proto-oncogene
|
STRA6
|
stimulated by retinoic acid 6
|
TGFB2
|
transforming growth factor, beta 2
|
TP53
|
tumor protein p53
|
TSPAN12
|
tetraspanin 12
|
VEGFA
|
vascular endothelial growth factor A
|
VSX2
|
visual system homeobox 2
|
WNT7B
|
wingless-type MMTV integration site family, member 7B
|