| Symbol |
Name |
|
ACADSB
|
acyl-CoA dehydrogenase, short/branched chain
|
|
ADD3
|
adducin 3 (gamma)
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
ATF6
|
activating transcription factor 6
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN3
|
ataxin 3
|
|
BCOR
|
BCL6 corepressor
|
|
BCORL1
|
BCL6 corepressor-like 1
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
BPTF
|
bromodomain PHD finger transcription factor
|
|
CDC42
|
cell division cycle 42
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CRIPT
|
cysteine-rich PDZ-binding protein
|
|
DES
|
desmin
|
|
DNMBP
|
dynamin binding protein
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
EBF3
|
early B-cell factor 3
|
|
EFNB1
|
ephrin-B1
|
|
ERBB4
|
erb-b2 receptor tyrosine kinase 4
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FBN1
|
fibrillin 1
|
|
FMN2
|
formin 2
|
|
GATAD2B
|
GATA zinc finger domain containing 2B
|
|
GNAT2
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
|
|
H3F3A
|
H3 histone, family 3A
|
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
|
IRF2BPL
|
interferon regulatory factor 2 binding protein-like
|
|
KDM1A
|
lysine (K)-specific demethylase 1A
|
|
KDM6B
|
lysine (K)-specific demethylase 6B
|
|
KIF21A
|
kinesin family member 21A
|
|
LYRM7
|
LYR motif containing 7
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MRPS34
|
mitochondrial ribosomal protein S34
|
|
MYF5
|
myogenic factor 5
|
|
NES
|
nestin
|
|
NGLY1
|
N-glycanase 1
|
|
OCA2
|
oculocutaneous albinism II
|
|
P4HTM
|
prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
|
|
PDE6C
|
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
|
|
PDE6H
|
phosphodiesterase 6H, cGMP-specific, cone, gamma
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PHIP
|
pleckstrin homology domain interacting protein
|
|
PHOX2A
|
paired-like homeobox 2a
|
|
PIGQ
|
phosphatidylinositol glycan anchor biosynthesis, class Q
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRR12
|
proline rich 12
|
|
PTRH2
|
peptidyl-tRNA hydrolase 2
|
|
PUF60
|
poly-U binding splicing factor 60KDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC25A46
|
solute carrier family 25, member 46
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SMAD3
|
SMAD family member 3
|
|
SNX14
|
sorting nexin 14
|
|
SON
|
SON DNA binding protein
|
|
SOX5
|
SRY (sex determining region Y)-box 5
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
TANGO2
|
transport and golgi organization 2 homolog (Drosophila)
|
|
TBX1
|
T-box 1
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TYR
|
tyrosinase
|
|
UBA5
|
ubiquitin-like modifier activating enzyme 5
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
WARS2
|
tryptophanyl tRNA synthetase 2, mitochondrial
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
