| Symbol |
Name |
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARX
|
aristaless related homeobox
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATR
|
ATR serine/threonine kinase
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
B9D1
|
B9 protein domain 1
|
|
BMPER
|
BMP binding endothelial regulator
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCND2
|
cyclin D2
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DCX
|
doublecortin
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DOCK6
|
dedicator of cytokinesis 6
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ETFA
|
electron-transfer-flavoprotein, alpha polypeptide
|
|
ETFB
|
electron-transfer-flavoprotein, beta polypeptide
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXG1
|
forkhead box G1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FTO
|
fat mass and obesity associated
|
|
GDF6
|
growth differentiation factor 6
|
|
GLI2
|
GLI family zinc finger 2
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GPX4
|
glutathione peroxidase 4
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HIC1
|
hypermethylated in cancer 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
IQCB1
|
IQ motif containing B1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KIAA0196
|
KIAA0196
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF2A
|
kinesin heavy chain member 2A
|
|
KIF5C
|
kinesin family member 5C
|
|
LAMA2
|
laminin, alpha 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLYCD
|
malonyl-CoA decarboxylase
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
NBN
|
nibrin
|
|
ND1
|
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NEK1
|
NIMA-related kinase 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OCLN
|
occludin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
RELN
|
reelin
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RTTN
|
rotatin
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TUBA8
|
tubulin, alpha 8
|
|
TUBB
|
tubulin, beta class I
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TUFM
|
Tu translation elongation factor, mitochondrial
|
|
TULP1
|
tubby like protein 1
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
VTI1A
|
vesicle transport through interaction with t-SNAREs 1A
|
|
WDR62
|
WD repeat domain 62
|
|
YWHAE
|
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
|
|
ZNF423
|
zinc finger protein 423
|
