| Symbol |
Name |
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
APOA1
|
apolipoprotein A-I
|
|
ARG1
|
arginase 1
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP1A4
|
ATPase, Na+/K+ transporting, alpha 4 polypeptide
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CALCA
|
calcitonin-related polypeptide alpha
|
|
CAVIN2
|
caveolae associated protein 2
|
|
CBS
|
cystathionine-beta-synthase
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CGA
|
glycoprotein hormones, alpha polypeptide
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CSAD
|
cysteine sulfinic acid decarboxylase
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EPCAM
|
epithelial cell adhesion molecule
|
|
ERGIC1
|
endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
FAN1
|
FANCD2/FANCI-associated nuclease 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HESX1
|
HESX homeobox 1
|
|
HMGCL
|
3-hydroxymethyl-3-methylglutaryl-CoA lyase
|
|
HNRNPU
|
heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT140
|
intraflagellar transport 140
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IQCB1
|
IQ motif containing B1
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNA5
|
potassium channel, voltage gated shaker related subfamily A, member 5
|
|
KCNA6
|
potassium channel, voltage gated shaker related subfamily A, member 6
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KCNK18
|
potassium channel, two pore domain subfamily K, member 18
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LAGE3
|
L antigen family, member 3
|
|
LARGE
|
like-glycosyltransferase
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MEOX1
|
mesenchyme homeobox 1
|
|
MLH1
|
mutL homolog 1
|
|
MLH3
|
mutL homolog 3
|
|
MMUT
|
methylmalonyl-CoA mutase
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ATP8
|
ATP synthase F0 subunit 8
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOTCH3
|
notch 3
|
|
NUP107
|
nucleoporin 107kDa
|
|
NUP133
|
nucleoporin 133kDa
|
|
OSGEP
|
O-sialoglycoprotein endopeptidase
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS1
|
PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNKD
|
paroxysmal nonkinesigenic dyskinesia
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRDM16
|
PR domain containing 16
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PRNP
|
prion protein
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RERE
|
arginine-glutamic acid dipeptide (RE) repeats
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RNF216
|
ring finger protein 216
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPS20
|
ribosomal protein S20
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPATA7
|
spermatogenesis associated 7
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TP53
|
tumor protein p53
|
|
TP53RK
|
TP53 regulating kinase
|
|
TPRKB
|
TP53RK binding protein
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TUBB6
|
tubulin, beta 6 class V
|
|
TULP1
|
tubby like protein 1
|
|
USP45
|
ubiquitin specific peptidase 45
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
WDR4
|
WD repeat domain 4
|
|
WDR73
|
WD repeat domain 73
|
