| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABAT
|
4-aminobutyrate aminotransferase
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB7
|
ATP-binding cassette, sub-family B (MDR/TAP), member 7
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADCK3
|
aarF domain containing kinase 3
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFG3L2
|
AFG3-like AAA ATPase 2
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
AMT
|
aminomethyltransferase
|
|
ANO10
|
anoctamin 10
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP4B1
|
adaptor-related protein complex 4, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
AP4S1
|
adaptor-related protein complex 4, sigma 1 subunit
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ASNS
|
asparagine synthetase (glutamine-hydrolyzing)
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN1
|
ataxin 1
|
|
ATXN10
|
ataxin 10
|
|
ATXN7
|
ataxin 7
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BEST1
|
bestrophin 1
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CA8
|
carbonic anhydrase VIII
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CERKL
|
ceramide kinase-like
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
CLRN1
|
clarin 1
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
COQ9
|
coenzyme Q9
|
|
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
|
|
CREBBP
|
CREB binding protein
|
|
CRX
|
cone-rod homeobox
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
|
DARS
|
aspartyl-tRNA synthetase
|
|
DARS2
|
aspartyl-tRNA synthetase 2, mitochondrial
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DDHD1
|
DDHD domain containing 1
|
|
DDHD2
|
DDHD domain containing 2
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
ELN
|
elastin
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
EXOSC3
|
exosome component 3
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
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
|
|
FBXO7
|
F-box protein 7
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FTL
|
ferritin, light polypeptide
|
|
FUS
|
FUS RNA binding protein
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GALC
|
galactosylceramidase
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GBA
|
glucosidase, beta, acid
|
|
GBA2
|
glucosidase, beta (bile acid) 2
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLRB
|
glycine receptor, beta
|
|
GLUL
|
glutamate-ammonia ligase
|
|
GLYCTK
|
glycerate kinase
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GPHN
|
gephyrin
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HTRA1
|
HtrA serine peptidase 1
|
|
HTT
|
huntingtin
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL23R
|
interleukin 23 receptor
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
JAM3
|
junctional adhesion molecule 3
|
|
JPH3
|
junctophilin 3
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCND3
|
potassium channel, voltage gated Shal related subfamily D, member 3
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIAA0196
|
KIAA0196
|
|
KIAA0226
|
KIAA0226
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1C
|
kinesin family member 1C
|
|
KIF5A
|
kinesin family member 5A
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LARGE
|
like-glycosyltransferase
|
|
LBR
|
lamin B receptor
|
|
LIMK1
|
LIM domain kinase 1
|
|
LINS
|
lines homolog (Drosophila)
|
|
LMNB1
|
lamin B1
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
MAK
|
male germ cell-associated kinase
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MARS2
|
methionyl-tRNA synthetase 2, mitochondrial
|
|
MAT1A
|
methionine adenosyltransferase I, alpha
|
|
MATR3
|
matrin 3
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCOLN1
|
mucolipin 1
|
|
MCPH1
|
microcephalin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED17
|
mediator complex subunit 17
|
|
MEFV
|
Mediterranean fever
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFN2
|
mitofusin 2
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NALCN
|
sodium leak channel, non selective
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
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
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NIPA1
|
non imprinted in Prader-Willi/Angelman syndrome 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP56
|
NOP56 ribonucleoprotein
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NRL
|
neural retina leucine zipper
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
NUBPL
|
nucleotide binding protein-like
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCLN
|
occludin
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPA3
|
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
|
|
PAH
|
phenylalanine hydroxylase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PARK2
|
parkin RBR E3 ubiquitin protein ligase
|
|
PAX1
|
paired box 1
|
|
PC
|
pyruvate carboxylase
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDYN
|
prodynorphin
|
|
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
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGN
|
phosphatidylinositol glycan anchor biosynthesis, class N
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCB1
|
phospholipase C, beta 1 (phosphoinositide-specific)
|
|
PLP1
|
proteolipid protein 1
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRKRA
|
protein kinase, interferon-inducible double stranded RNA dependent activator
|
|
PRNP
|
prion protein
|
|
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
|
|
PRSS12
|
protease, serine, 12 (neurotrypsin, motopsin)
|
|
PSAP
|
prosaposin
|
|
PSEN1
|
presenilin 1
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QARS
|
glutaminyl-tRNA synthetase
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAD51C
|
RAD51 paralog C
|
|
RARS2
|
arginyl-tRNA synthetase 2, mitochondrial
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
REEP1
|
receptor accessory protein 1
|
|
REEP2
|
receptor accessory protein 2
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
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
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RTN2
|
reticulon 2
|
|
SACS
|
sacsin molecular chaperone
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHAF1
|
succinate dehydrogenase complex assembly factor 1
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SETX
|
senataxin
|
|
SIGMAR1
|
sigma non-opioid intracellular receptor 1
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC25A12
|
solute carrier family 25 (aspartate/glutamate carrier), member 12
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC33A1
|
solute carrier family 33 (acetyl-CoA transporter), member 1
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPAST
|
spastin
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SURF1
|
surfeit 1
|
|
TAF2
|
TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TFG
|
TRK-fused gene
|
|
TGM6
|
transglutaminase 6
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TLR4
|
toll-like receptor 4
|
|
TMEM67
|
transmembrane protein 67
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TPP1
|
tripeptidyl peptidase I
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TTBK2
|
tau tubulin kinase 2
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
|
UQCRQ
|
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAMP1
|
vesicle-associated membrane protein 1 (synaptobrevin 1)
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS37A
|
vacuolar protein sorting 37 homolog A (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
WDR62
|
WD repeat domain 62
|
|
WDR81
|
WD repeat domain 81
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZFYVE27
|
zinc finger, FYVE domain containing 27
|
|
ZNF513
|
zinc finger protein 513
|
|
ZNF592
|
zinc finger protein 592
|
