| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
AGK
|
acylglycerol kinase
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
|
ALG2
|
ALG2, alpha-1,3/1,6-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALX4
|
ALX homeobox 4
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANO10
|
anoctamin 10
|
|
ANOS1
|
anosmin 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
APTX
|
aprataxin
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASPA
|
aspartoacylase
|
|
ATCAY
|
ataxia, cerebellar, Cayman type
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATN1
|
atrophin 1
|
|
ATOH7
|
atonal homolog 7 (Drosophila)
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP2B3
|
ATPase, Ca++ transporting, plasma membrane 3
|
|
ATP5A1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN2
|
ataxin 2
|
|
ATXN3
|
ataxin 3
|
|
ATXN7
|
ataxin 7
|
|
ATXN8
|
ataxin 8
|
|
ATXN8OS
|
ATXN8 opposite strand (non-protein coding)
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
B9D1
|
B9 protein domain 1
|
|
BBIP1
|
BBSome interacting protein 1
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCOR
|
BCL6 corepressor
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEAN1
|
brain expressed, associated with NEDD4, 1
|
|
BEST1
|
bestrophin 1
|
|
BLOC1S6
|
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
C10ORF11
|
chromosome 10 open reading frame 11
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHN1
|
chimerin 1
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLDN16
|
claudin 16
|
|
CLDN19
|
claudin 19
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
CNNM4
|
cyclin and CBS domain divalent metal cation transport mediator 4
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYBA4
|
crystallin, beta A4
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYBB2
|
crystallin, beta B2
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CYP1B1
|
cytochrome P450, family 1, subfamily B, polypeptide 1
|
|
DARS
|
aspartyl-tRNA synthetase
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DCX
|
doublecortin
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR24
|
24-dehydrocholesterol reductase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DNM1L
|
dynamin 1-like
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DPP6
|
dipeptidyl-peptidase 6
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EDNRB
|
endothelin receptor type B
|
|
EEF2
|
eukaryotic translation elongation factor 2
|
|
EFNB1
|
ephrin-B1
|
|
EGR2
|
early growth response 2
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ELOVL5
|
ELOVL fatty acid elongase 5
|
|
ELP4
|
elongator acetyltransferase complex subunit 4
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
EXOSC3
|
exosome component 3
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXC1
|
forkhead box C1
|
|
FOXL2
|
forkhead box L2
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FRMD7
|
FERM domain containing 7
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FXN
|
frataxin
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALC
|
galactosylceramidase
|
|
GAN
|
gigaxonin
|
|
GATA3
|
GATA binding protein 3
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GDF3
|
growth differentiation factor 3
|
|
GDF6
|
growth differentiation factor 6
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJA8
|
gap junction protein, alpha 8, 50kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAS
|
GNAS complex locus
|
|
GNAT2
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GPR179
|
G protein-coupled receptor 179
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HDAC8
|
histone deacetylase 8
|
|
HDAC9
|
histone deacetylase 9
|
|
HESX1
|
HESX homeobox 1
|
|
HMGB3
|
high mobility group box 3
|
|
HMX1
|
H6 family homeobox 1
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS3
|
Hermansky-Pudlak syndrome 3
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT43
|
intraflagellar transport 43
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
IQCB1
|
IQ motif containing B1
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0226
|
KIAA0226
|
|
KIF1C
|
kinesin family member 1C
|
|
KIF2A
|
kinesin heavy chain member 2A
|
|
KIF7
|
kinesin family member 7
|
|
KISS1R
|
KISS1 receptor
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMA1
|
laminin, alpha 1
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LARGE
|
like-glycosyltransferase
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LMNB1
|
lamin B1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LYST
|
lysosomal trafficking regulator
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAF
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
|
|
MAK
|
male germ cell-associated kinase
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MCOLN1
|
mucolipin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
MPC1
|
mitochondrial pyruvate carrier 1
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MRE11A
|
MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MVK
|
mevalonate kinase
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYO7A
|
myosin VIIA
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NALCN
|
sodium leak channel, non selective
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
NDUFA12
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
|
|
NDUFA2
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
|
|
NDUFA9
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
|
|
NDUFAF1
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF3
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
|
|
NDUFAF4
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
|
|
NDUFAF5
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
NDUFB3
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
|
|
NDUFB9
|
NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
|
|
NDUFS1
|
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
|
|
NDUFS2
|
NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
|
|
NDUFS3
|
NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NDUFS6
|
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
|
|
NDUFS7
|
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
|
|
NDUFS8
|
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NEK2
|
NIMA-related kinase 2
|
|
NELFA
|
negative elongation factor complex member A
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NME1
|
NME/NM23 nucleoside diphosphate kinase 1
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP4
|
nephronophthisis 4
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR2F1
|
nuclear receptor subfamily 2, group F, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRL
|
neural retina leucine zipper
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
NUBPL
|
nucleotide binding protein-like
|
|
NUP62
|
nucleoporin 62kDa
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
OPHN1
|
oligophrenin 1
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAX2
|
paired box 2
|
|
PAX6
|
paired box 6
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6C
|
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDE6H
|
phosphodiesterase 6H, cGMP-specific, cone, gamma
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PDZD7
|
PDZ domain containing 7
|
|
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
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3R5
|
phosphoinositide-3-kinase, regulatory subunit 5
|
|
PITX2
|
paired-like homeodomain 2
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PRICKLE2
|
prickle homolog 2 (Drosophila)
|
|
PRKCG
|
protein kinase C, gamma
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROM1
|
prominin 1
|
|
PRPF3
|
pre-mRNA processing factor 3
|
|
PRPF31
|
pre-mRNA processing factor 31
|
|
PRPF4
|
pre-mRNA processing factor 4
|
|
PRPF6
|
pre-mRNA processing factor 6
|
|
PRPF8
|
pre-mRNA processing factor 8
|
|
PRPH2
|
peripherin 2 (retinal degeneration, slow)
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRSS12
|
protease, serine, 12 (neurotrypsin, motopsin)
|
|
PRX
|
periaxin
|
|
PTCH1
|
patched 1
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RNASET2
|
ribonuclease T2
|
|
RNF216
|
ring finger protein 216
|
|
ROBO3
|
roundabout, axon guidance receptor, homolog 3 (Drosophila)
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP2
|
retinitis pigmentosa 2 (X-linked recessive)
|
|
RP9
|
retinitis pigmentosa 9 (autosomal dominant)
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SACS
|
sacsin molecular chaperone
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SERPINI1
|
serpin peptidase inhibitor, clade I (neuroserpin), member 1
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC24A5
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
|
SLC38A8
|
solute carrier family 38, member 8
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SLC4A11
|
solute carrier family 4, sodium borate transporter, member 11
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
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
|
|
SNIP1
|
Smad nuclear interacting protein 1
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNX10
|
sorting nexin 10
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOST
|
sclerostin
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX11
|
SRY (sex determining region Y)-box 11
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPAST
|
spastin
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SURF1
|
surfeit 1
|
|
SYT14
|
synaptotagmin XIV
|
|
TACR3
|
tachykinin receptor 3
|
|
TAF2
|
TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
|
|
TAT
|
tyrosine aminotransferase
|
|
TBP
|
TATA box binding protein
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFB2
|
transforming growth factor, beta 2
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMEM126A
|
transmembrane protein 126A
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TTR
|
transthyretin
|
|
TUB
|
tubby bipartite transcription factor
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TUFM
|
Tu translation elongation factor, mitochondrial
|
|
TULP1
|
tubby like protein 1
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UROC1
|
urocanate hydratase 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
YAP1
|
Yes-associated protein 1
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZFP90
|
ZFP90 zinc finger protein
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZNF423
|
zinc finger protein 423
|
|
ZNF513
|
zinc finger protein 513
|
