| Symbol |
Name |
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALX4
|
ALX homeobox 4
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
B9D1
|
B9 protein domain 1
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BTD
|
biotinidase
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CDH23
|
cadherin-related 23
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DOK7
|
docking protein 7
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERF
|
Ets2 repressor factor
|
|
EXOSC3
|
exosome component 3
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLVCR2
|
feline leukemia virus subgroup C cellular receptor family, member 2
|
|
FMR1
|
fragile X mental retardation 1
|
|
GDF6
|
growth differentiation factor 6
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HDAC6
|
histone deacetylase 6
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HHAT
|
hedgehog acyltransferase
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
IQCB1
|
IQ motif containing B1
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
JAM3
|
junctional adhesion molecule 3
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KIAA0196
|
KIAA0196
|
|
KIF7
|
kinesin family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMB1
|
laminin, beta 1
|
|
LARGE
|
like-glycosyltransferase
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LYST
|
lysosomal trafficking regulator
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MKS1
|
Meckel syndrome, type 1
|
|
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-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYO7A
|
myosin VIIA
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
ND1
|
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NELFA
|
negative elongation factor complex member A
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
OCLN
|
occludin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAX6
|
paired box 6
|
|
PCDH15
|
protocadherin-related 15
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDZD7
|
PDZ domain containing 7
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PLG
|
plasminogen
|
|
PMM2
|
phosphomannomutase 2
|
|
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
|
|
PROKR2
|
prokineticin receptor 2
|
|
PRRX1
|
paired related homeobox 1
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTF1A
|
pancreas specific transcription factor, 1a
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM10
|
RNA binding motif protein 10
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
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
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SDHC
|
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
|
|
SDHD
|
succinate dehydrogenase complex, subunit D, integral membrane protein
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX3
|
SIX homeobox 3
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
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
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPATA7
|
spermatogenesis associated 7
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM5
|
transmembrane protein 5
|
|
TMEM67
|
transmembrane protein 67
|
|
TRNE
|
|
|
TSEN2
|
TSEN2 tRNA splicing endonuclease subunit
|
|
TSEN34
|
TSEN34 tRNA splicing endonuclease subunit
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TUBB
|
tubulin, beta class I
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TULP1
|
tubby like protein 1
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VRK1
|
vaccinia related kinase 1
|
|
WDR81
|
WD repeat domain 81
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
ZNF423
|
zinc finger protein 423
|
