| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACTB
|
actin, beta
|
|
ACVRL1
|
activin A receptor type II-like 1
|
|
ADAM9
|
ADAM metallopeptidase domain 9
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTSL4
|
ADAMTS-like 4
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADRA2B
|
adrenoceptor alpha 2B
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIMP1
|
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AIRE
|
autoimmune regulator
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMACR
|
alpha-methylacyl-CoA racemase
|
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANOS1
|
anosmin 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARX
|
aristaless related homeobox
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ASPA
|
aspartoacylase
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN7
|
ataxin 7
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEST1
|
bestrophin 1
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
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
|
|
BTD
|
biotinidase
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C1QTNF5
|
C1q and tumor necrosis factor related protein 5
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA2
|
carbonic anhydrase II
|
|
CA4
|
carbonic anhydrase IV
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNA2D4
|
calcium channel, voltage-dependent, alpha 2/delta subunit 4
|
|
CALR
|
calreticulin
|
|
CAPN5
|
calpain 5
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CDH23
|
cadherin-related 23
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDHR1
|
cadherin-related family member 1
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP164
|
centrosomal protein 164kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CFH
|
complement factor H
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHN1
|
chimerin 1
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
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
|
|
CNTN2
|
contactin 2 (axonal)
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL18A1
|
collagen, type XVIII, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CRX
|
cone-rod homeobox
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYGC
|
crystallin, gamma C
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSD
|
cathepsin D
|
|
DCN
|
decorin
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DOCK7
|
dedicator of cytokinesis 7
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DRD5
|
dopamine receptor D5
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EARS2
|
glutamyl-tRNA synthetase 2, mitochondrial
|
|
EIF2B1
|
eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
|
|
EIF2B2
|
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
|
|
EIF2B3
|
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
|
|
EIF2B4
|
eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
|
|
EIF2B5
|
eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ENG
|
endoglin
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERF
|
Ets2 repressor factor
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
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
|
|
FARS2
|
phenylalanyl-tRNA synthetase 2, mitochondrial
|
|
FBN1
|
fibrillin 1
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FRMD7
|
FERM domain containing 7
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FXN
|
frataxin
|
|
FZD4
|
frizzled class receptor 4
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALC
|
galactosylceramidase
|
|
GATA2
|
GATA binding protein 2
|
|
GDF2
|
growth differentiation factor 2
|
|
GDF3
|
growth differentiation factor 3
|
|
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
|
|
GM2A
|
GM2 ganglioside activator
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GNAT2
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GPR179
|
G protein-coupled receptor 179
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GRN
|
granulin
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCA1A
|
guanylate cyclase activator 1A (retina)
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HBB
|
hemoglobin, beta
|
|
HCCS
|
holocytochrome c synthase
|
|
HESX1
|
HESX homeobox 1
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS3
|
Hermansky-Pudlak syndrome 3
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IFT140
|
intraflagellar transport 140
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL10
|
interleukin 10
|
|
IL12B
|
interleukin 12B
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IL23R
|
interleukin 23 receptor
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG1
|
interphotoreceptor matrix proteoglycan 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INVS
|
inversin
|
|
IQCB1
|
IQ motif containing B1
|
|
JAK2
|
Janus kinase 2
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KIF11
|
kinesin family member 11
|
|
KISS1R
|
KISS1 receptor
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
LAMA1
|
laminin, alpha 1
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LCA5
|
Leber congenital amaurosis 5
|
|
LEMD3
|
LEM domain containing 3
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNB1
|
lamin B1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAK
|
male germ cell-associated kinase
|
|
MAPK8IP3
|
mitogen-activated protein kinase 8 interacting protein 3
|
|
MAPT
|
microtubule-associated protein tau
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
|
MEFV
|
Mediterranean fever
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MIR184
|
microRNA 184
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLH1
|
mutL homolog 1
|
|
MLX
|
MLX, MAX dimerization protein
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
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
|
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MYO7A
|
myosin VIIA
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
ND1
|
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFA1
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
|
|
NDUFA11
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
|
|
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
|
|
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)
|
|
NDUFV1
|
NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
|
|
NDUFV2
|
NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
|
|
NEK2
|
NIMA-related kinase 2
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH3
|
notch 3
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR2F1
|
nuclear receptor subfamily 2, group F, member 1
|
|
NRL
|
neural retina leucine zipper
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OAT
|
ornithine aminotransferase
|
|
OCA2
|
oculocutaneous albinism II
|
|
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)
|
|
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
|
|
PCDH15
|
protocadherin-related 15
|
|
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
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDE6H
|
phosphodiesterase 6H, cGMP-specific, cone, gamma
|
|
PDSS2
|
prenyl (decaprenyl) diphosphate synthase, subunit 2
|
|
PDZD7
|
PDZ domain containing 7
|
|
PEPD
|
peptidase D
|
|
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
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PHF6
|
PHD finger protein 6
|
|
PHOX2A
|
paired-like homeobox 2a
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PITPNM3
|
PITPNM family member 3
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLG
|
plasminogen
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POC1B
|
POC1 centriolar protein B
|
|
POLA1
|
polymerase (DNA directed), alpha 1, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PRDM5
|
PR domain containing 5
|
|
PRIMPOL
|
primase and polymerase (DNA-directed)
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROM1
|
prominin 1
|
|
PROS1
|
protein S (alpha)
|
|
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
|
|
PRTN3
|
proteinase 3
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB28
|
RAB28, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAX2
|
retina and anterior neural fold homeobox 2
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RBP4
|
retinol binding protein 4, plasma
|
|
RD3
|
retinal degeneration 3
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RGR
|
retinal G protein coupled receptor
|
|
RGS9
|
regulator of G-protein signaling 9
|
|
RGS9BP
|
regulator of G protein signaling 9 binding protein
|
|
RHO
|
rhodopsin
|
|
RIMS1
|
regulating synaptic membrane exocytosis 1
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
ROM1
|
retinal outer segment membrane protein 1
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RP1L1
|
retinitis pigmentosa 1-like 1
|
|
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
|
|
RS1
|
retinoschisin 1
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SDCCAG8
|
serologically defined colon cancer antigen 8
|
|
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
|
|
SETBP1
|
SET binding protein 1
|
|
SFXN4
|
sideroflexin 4
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC24A5
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
|
|
SLC25A1
|
solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
|
|
SLC38A8
|
solute carrier family 38, member 8
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
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
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNX10
|
sorting nexin 10
|
|
SNX3
|
sorting nexin 3
|
|
SOBP
|
sine oculis binding protein homolog (Drosophila)
|
|
SOST
|
sclerostin
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TACR3
|
tachykinin receptor 3
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TAT
|
tyrosine aminotransferase
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TENM3
|
teneurin transmembrane protein 3
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TFG
|
TRK-fused gene
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM126A
|
transmembrane protein 126A
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TMEM98
|
transmembrane protein 98
|
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP53
|
tumor protein p53
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRNE
|
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TSEN34
|
TSEN34 tRNA splicing endonuclease subunit
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TSPAN12
|
tetraspanin 12
|
|
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
|
|
TULP1
|
tubby like protein 1
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
TYR
|
tyrosinase
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UNC119
|
unc-119 homolog (C. elegans)
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VCAN
|
versican
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WDR11
|
WD repeat domain 11
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WT1
|
Wilms tumor 1
|
|
YAP1
|
Yes-associated protein 1
|
|
ZFP90
|
ZFP90 zinc finger protein
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZNF423
|
zinc finger protein 423
|
|
ZNF469
|
zinc finger protein 469
|
|
ZNF513
|
zinc finger protein 513
|
