Symbol |
Name |
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
ABHD12
|
abhydrolase domain containing 12
|
ACO2
|
aconitase 2, mitochondrial
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
ACTA2
|
actin, alpha 2, smooth muscle, aorta
|
ACTB
|
actin, beta
|
ACTG1
|
actin gamma 1
|
ACVRL1
|
activin A receptor type II-like 1
|
ADAM9
|
ADAM metallopeptidase domain 9
|
ADAMTSL4
|
ADAMTS-like 4
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
AGK
|
acylglycerol kinase
|
AGXT
|
alanine-glyoxylate aminotransferase
|
AHI1
|
Abelson helper integration site 1
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
ALDH1A3
|
aldehyde dehydrogenase 1 family, member A3
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
ALG13
|
ALG13, UDP-N-acetylglucosaminyltransferase subunit
|
ALG3
|
ALG3, alpha-1,3- mannosyltransferase
|
ALMS1
|
Alstrom syndrome protein 1
|
AMACR
|
alpha-methylacyl-CoA racemase
|
AMPD2
|
adenosine monophosphate deaminase 2
|
ANK1
|
ankyrin 1, erythrocytic
|
ANKRD11
|
ankyrin repeat domain 11
|
ANTXR1
|
anthrax toxin receptor 1
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
APC
|
adenomatous polyposis coli
|
APOB
|
apolipoprotein B
|
APOC2
|
apolipoprotein C-II
|
APOE
|
apolipoprotein E
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
ARL6
|
ADP-ribosylation factor-like 6
|
ARSA
|
arylsulfatase A
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
ARX
|
aristaless related homeobox
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
ASPA
|
aspartoacylase
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
ATOH7
|
atonal homolog 7 (Drosophila)
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
ATXN1
|
ataxin 1
|
ATXN2
|
ataxin 2
|
ATXN7
|
ataxin 7
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
B3GNT1
|
|
B9D1
|
B9 protein domain 1
|
B9D2
|
B9 protein domain 2
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
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
|
BCAP31
|
B-cell receptor-associated protein 31
|
BCOR
|
BCL6 corepressor
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
BEST1
|
bestrophin 1
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
BLOC1S6
|
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
|
BMP4
|
bone morphogenetic protein 4
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
BTD
|
biotinidase
|
C10ORF2
|
chromosome 10 open reading frame 2
|
C12ORF57
|
chromosome 12 open reading frame 57
|
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
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
CACNA2D4
|
calcium channel, voltage-dependent, alpha 2/delta subunit 4
|
CAPN5
|
calpain 5
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
CASR
|
calcium-sensing receptor
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
CBS
|
cystathionine-beta-synthase
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
CCDC22
|
coiled-coil domain containing 22
|
CDH23
|
cadherin-related 23
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
CDHR1
|
cadherin-related family member 1
|
CDK4
|
cyclin-dependent kinase 4
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
CDKN2D
|
cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
CEP164
|
centrosomal protein 164kDa
|
CEP290
|
centrosomal protein 290kDa
|
CEP41
|
centrosomal protein 41kDa
|
CERKL
|
ceramide kinase-like
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
CHEK2
|
checkpoint kinase 2
|
CHM
|
choroideremia (Rab escort protein 1)
|
CHN1
|
chimerin 1
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
CHSY1
|
chondroitin sulfate synthase 1
|
CIB2
|
calcium and integrin binding family member 2
|
CISD2
|
CDGSH iron sulfur domain 2
|
CLCN2
|
chloride channel, voltage-sensitive 2
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
CLDN19
|
claudin 19
|
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
|
CLRN1
|
clarin 1
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
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
|
COA5
|
cytochrome c oxidase assembly factor 5
|
COL11A1
|
collagen, type XI, alpha 1
|
COL18A1
|
collagen, type XVIII, alpha 1
|
COL1A1
|
collagen, type I, alpha 1
|
COL2A1
|
collagen, type II, alpha 1
|
COL4A1
|
collagen, type IV, alpha 1
|
COL5A1
|
collagen, type V, alpha 1
|
COL5A2
|
collagen, type V, alpha 2
|
COL9A1
|
collagen, type IX, alpha 1
|
COL9A2
|
collagen, type IX, alpha 2
|
COL9A3
|
collagen, type IX, alpha 3
|
COMT
|
catechol-O-methyltransferase
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
COX1
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
COX14
|
COX14 cytochrome c oxidase assembly factor
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
COX2
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
COX3
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
CP
|
ceruloplasmin (ferroxidase)
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
CREBBP
|
CREB binding protein
|
CRX
|
cone-rod homeobox
|
CRYAB
|
crystallin, alpha B
|
CRYBA4
|
crystallin, beta A4
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
CST3
|
cystatin C
|
CTC1
|
CTS telomere maintenance complex component 1
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
CTSA
|
cathepsin A
|
CTSD
|
cathepsin D
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
CYP7B1
|
cytochrome P450, family 7, subfamily B, polypeptide 1
|
DDHD2
|
DDHD domain containing 2
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
DFNB31
|
deafness, autosomal recessive 31
|
DHCR7
|
7-dehydrocholesterol reductase
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
DNM1L
|
dynamin 1-like
|
DNM2
|
dynamin 2
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
DOCK6
|
dedicator of cytokinesis 6
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
DPYD
|
dihydropyrimidine dehydrogenase
|
DTNBP1
|
dystrobrevin binding protein 1
|
DUX4
|
double homeobox 4
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
EBP
|
emopamil binding protein (sterol isomerase)
|
EDN3
|
endothelin 3
|
EDNRB
|
endothelin receptor type B
|
EFEMP1
|
EGF containing fibulin-like extracellular matrix protein 1
|
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
|
ELP4
|
elongator acetyltransferase complex subunit 4
|
ENG
|
endoglin
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
EPHA2
|
EPH receptor A2
|
ERBB3
|
erb-b2 receptor tyrosine kinase 3
|
ERCC1
|
excision repair cross-complementation group 1
|
ERCC2
|
excision repair cross-complementation group 2
|
ERCC3
|
excision repair cross-complementation group 3
|
ERCC4
|
excision repair cross-complementation group 4
|
ERCC5
|
excision repair cross-complementation group 5
|
ERCC6
|
excision repair cross-complementation group 6
|
ERCC8
|
excision repair cross-complementation group 8
|
ERF
|
Ets2 repressor factor
|
ETHE1
|
ethylmalonic encephalopathy 1
|
EXOSC3
|
exosome component 3
|
EYS
|
eyes shut homolog (Drosophila)
|
FA2H
|
fatty acid 2-hydroxylase
|
FAM111A
|
family with sequence similarity 111, member A
|
FAM161A
|
family with sequence similarity 161, member A
|
FAM58A
|
family with sequence similarity 58, member A
|
FANCB
|
Fanconi anemia, complementation group B
|
FASTKD2
|
FAST kinase domains 2
|
FBLN5
|
fibulin 5
|
FBN1
|
fibrillin 1
|
FGF23
|
fibroblast growth factor 23
|
FGF3
|
fibroblast growth factor 3
|
FGFR1
|
fibroblast growth factor receptor 1
|
FGFR2
|
fibroblast growth factor receptor 2
|
FGFR3
|
fibroblast growth factor receptor 3
|
FH
|
fumarate hydratase
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
FKRP
|
fukutin related protein
|
FKTN
|
fukutin
|
FLCN
|
folliculin
|
FLII
|
flightless I homolog (Drosophila)
|
FLNB
|
filamin B, beta
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
FNBP4
|
formin binding protein 4
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
FRG1
|
FSHD region gene 1
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
FXN
|
frataxin
|
FZD4
|
frizzled class receptor 4
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
GALC
|
galactosylceramidase
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
GALNTL5
|
polypeptide N-acetylgalactosaminyltransferase-like 5
|
GATA2
|
GATA binding protein 2
|
GATA3
|
GATA binding protein 3
|
GCDH
|
glutaryl-CoA dehydrogenase
|
GDF2
|
growth differentiation factor 2
|
GDF3
|
growth differentiation factor 3
|
GDF6
|
growth differentiation factor 6
|
GGCX
|
gamma-glutamyl carboxylase
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
GJC2
|
gap junction protein, gamma 2, 47kDa
|
GLA
|
galactosidase, alpha
|
GLB1
|
galactosidase, beta 1
|
GLI2
|
GLI family zinc finger 2
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
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
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
GPIHBP1
|
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
|
GPR143
|
G protein-coupled receptor 143
|
GRN
|
granulin
|
GSS
|
glutathione synthetase
|
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)
|
HADHA
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
|
HADHB
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
|
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)
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
HHAT
|
hedgehog acyltransferase
|
HIRA
|
histone cell cycle regulator
|
HLA-B
|
major histocompatibility complex, class I, B
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
HMX1
|
H6 family homeobox 1
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
HPS4
|
Hermansky-Pudlak syndrome 4
|
HPS5
|
Hermansky-Pudlak syndrome 5
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
IDS
|
iduronate 2-sulfatase
|
IDUA
|
iduronidase, alpha-L-
|
IFT122
|
intraflagellar transport 122
|
IFT140
|
intraflagellar transport 140
|
IFT172
|
intraflagellar transport 172
|
IFT27
|
intraflagellar transport 27
|
IFT80
|
intraflagellar transport 80
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
IGFBP7
|
insulin-like growth factor binding protein 7
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
IL10
|
interleukin 10
|
IL11RA
|
interleukin 11 receptor, alpha
|
IL12B
|
interleukin 12B
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
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
|
ISPD
|
isoprenoid synthase domain containing
|
JAG1
|
jagged 1
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
KIAA0196
|
KIAA0196
|
KIF11
|
kinesin family member 11
|
KIF1B
|
kinesin family member 1B
|
KIF7
|
kinesin family member 7
|
KIZ
|
kizuna centrosomal protein
|
KL
|
klotho
|
KLHL7
|
kelch-like family member 7
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
KRT71
|
keratin 71, type II
|
KRT74
|
keratin 74, type II
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
LAMA1
|
laminin, alpha 1
|
LAMB1
|
laminin, beta 1
|
LARGE
|
like-glycosyltransferase
|
LCA5
|
Leber congenital amaurosis 5
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
LHX3
|
LIM homeobox 3
|
LHX4
|
LIM homeobox 4
|
LIMK1
|
LIM domain kinase 1
|
LIPH
|
lipase, member H
|
LPAR6
|
lysophosphatidic acid receptor 6
|
LPL
|
lipoprotein lipase
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
LRP2
|
low density lipoprotein receptor-related protein 2
|
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
|
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
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
MC1R
|
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
|
MCOLN1
|
mucolipin 1
|
MED12
|
mediator complex subunit 12
|
MEF2C
|
myocyte enhancer factor 2C
|
MEFV
|
Mediterranean fever
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
MFN2
|
mitofusin 2
|
MFRP
|
membrane frizzled-related protein
|
MFSD8
|
major facilitator superfamily domain containing 8
|
MGP
|
matrix Gla protein
|
MITF
|
microphthalmia-associated transcription factor
|
MKKS
|
McKusick-Kaufman syndrome
|
MKS1
|
Meckel syndrome, type 1
|
MLPH
|
melanophilin
|
MLX
|
MLX, MAX dimerization protein
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
MOGS
|
mannosyl-oligosaccharide glucosidase
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
MT-ATP8
|
ATP synthase F0 subunit 8
|
MT-CYB
|
cytochrome b
|
MT-ND2
|
MTND2
|
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-TP
|
tRNA
|
MT-TQ
|
tRNA
|
MT-TS1
|
tRNA
|
MT-TS2
|
tRNA
|
MT-TW
|
tRNA
|
MTFMT
|
mitochondrial methionyl-tRNA formyltransferase
|
MTO1
|
mitochondrial tRNA translation optimization 1
|
MTPAP
|
mitochondrial poly(A) polymerase
|
MTTP
|
microsomal triglyceride transfer protein
|
MUT
|
methylmalonyl CoA mutase
|
MVK
|
mevalonate kinase
|
MYD88
|
myeloid differentiation primary response 88
|
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
|
NBAS
|
neuroblastoma amplified sequence
|
ND1
|
|
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)
|
NF2
|
neurofibromin 2 (merlin)
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
NLRP3
|
NLR family, pyrin domain containing 3
|
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
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
NUBPL
|
nucleotide binding protein-like
|
NUP62
|
nucleoporin 62kDa
|
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
|
OPN1SW
|
opsin 1 (cone pigments), short-wave-sensitive
|
OTX2
|
orthodenticle homeobox 2
|
P3H2
|
prolyl 3-hydroxylase 2
|
PANK2
|
pantothenate kinase 2
|
PAX2
|
paired box 2
|
PAX3
|
paired box 3
|
PAX6
|
paired box 6
|
PCDH15
|
protocadherin-related 15
|
PCK1
|
phosphoenolpyruvate carboxykinase 1 (soluble)
|
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
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
PDZD7
|
PDZ domain containing 7
|
PEPD
|
peptidase D
|
PET100
|
PET100 homolog (S. cerevisiae)
|
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
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
PITPNM3
|
PITPNM family member 3
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
PLP1
|
proteolipid protein 1
|
PMM2
|
phosphomannomutase 2
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
POC1B
|
POC1 centriolar protein B
|
POLG
|
polymerase (DNA directed), gamma
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
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
|
PORCN
|
porcupine homolog (Drosophila)
|
POT1
|
protection of telomeres 1
|
POU1F1
|
POU class 1 homeobox 1
|
PPT1
|
palmitoyl-protein thioesterase 1
|
PRCD
|
progressive rod-cone degeneration
|
PRDM16
|
PR domain containing 16
|
PRDM5
|
PR domain containing 5
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
PROKR2
|
prokineticin receptor 2
|
PROM1
|
prominin 1
|
PROP1
|
PROP paired-like homeobox 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
|
PRRT2
|
proline-rich transmembrane protein 2
|
PRTN3
|
proteinase 3
|
PSAP
|
prosaposin
|
PTCH1
|
patched 1
|
PTEN
|
phosphatase and tensin homolog
|
PTF1A
|
pancreas specific transcription factor, 1a
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
RAB18
|
RAB18, member RAS oncogene family
|
RAB23
|
RAB23, member RAS oncogene family
|
RAB27A
|
RAB27A, 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)
|
RAI1
|
retinoic acid induced 1
|
RAX2
|
retina and anterior neural fold homeobox 2
|
RB1
|
retinoblastoma 1
|
RBM10
|
RNA binding motif protein 10
|
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)
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
RECQL4
|
RecQ protein-like 4
|
RET
|
ret proto-oncogene
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
RGR
|
retinal G protein coupled receptor
|
RHO
|
rhodopsin
|
RIMS1
|
regulating synaptic membrane exocytosis 1
|
RLBP1
|
retinaldehyde binding protein 1
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
RNF216
|
ring finger protein 216
|
RNR1
|
RNA, ribosomal cluster 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
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
RPGRIP1L
|
RPGRIP1-like
|
RPIA
|
ribose 5-phosphate isomerase A
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
RS1
|
retinoschisin 1
|
SACS
|
sacsin molecular chaperone
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
SALL1
|
spalt-like transcription factor 1
|
SALL4
|
spalt-like transcription factor 4
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
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)
|
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
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
SETBP1
|
SET binding protein 1
|
SH2B1
|
SH2B adaptor protein 1
|
SH3BP2
|
SH3-domain binding protein 2
|
SIL1
|
SIL1 nucleotide exchange factor
|
SIX6
|
SIX homeobox 6
|
SKI
|
SKI proto-oncogene
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
SLC35A2
|
solute carrier family 35 (UDP-galactose transporter), member A2
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
SLC38A8
|
solute carrier family 38, member 8
|
SLC45A2
|
solute carrier family 45, member 2
|
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
|
SMAD4
|
SMAD family member 4
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
SMOC1
|
SPARC related modular calcium binding 1
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
SNX10
|
sorting nexin 10
|
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)
|
SPG7
|
spastic paraplegia 7 (pure and complicated autosomal recessive)
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
STAMBP
|
STAM binding protein
|
STAT4
|
signal transducer and activator of transcription 4
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
SUMF1
|
sulfatase modifying factor 1
|
SURF1
|
surfeit 1
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
TBC1D20
|
TBC1 domain family, member 20
|
TBC1D24
|
TBC1 domain family, member 24
|
TBC1D7
|
TBC1 domain family, member 7
|
TBL2
|
transducin (beta)-like 2
|
TBX1
|
T-box 1
|
TBX22
|
T-box 22
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
TCTN2
|
tectonic family member 2
|
TEAD1
|
TEA domain family member 1 (SV40 transcriptional enhancer factor)
|
TERC
|
telomerase RNA component
|
TERT
|
telomerase reverse transcriptase
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
TFG
|
TRK-fused gene
|
TGFB1
|
transforming growth factor, beta 1
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
TIMP3
|
TIMP metallopeptidase inhibitor 3
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
TLR4
|
toll-like receptor 4
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
TMEM114
|
transmembrane protein 114
|
TMEM126A
|
transmembrane protein 126A
|
TMEM138
|
transmembrane protein 138
|
TMEM216
|
transmembrane protein 216
|
TMEM231
|
transmembrane protein 231
|
TMEM237
|
transmembrane protein 237
|
TMEM5
|
transmembrane protein 5
|
TMEM67
|
transmembrane protein 67
|
TMEM98
|
transmembrane protein 98
|
TNFRSF11A
|
tumor necrosis factor receptor superfamily, member 11a, NFKB activator
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
TP53
|
tumor protein p53
|
TPI1
|
triosephosphate isomerase 1
|
TPP1
|
tripeptidyl peptidase I
|
TREX1
|
three prime repair exonuclease 1
|
TRIM32
|
tripartite motif containing 32
|
TRIM37
|
tripartite motif containing 37
|
TRNE
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
TSC1
|
tuberous sclerosis 1
|
TSC2
|
tuberous sclerosis 2
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
TSPAN12
|
tetraspanin 12
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
TTC8
|
tetratricopeptide repeat domain 8
|
TTPA
|
tocopherol (alpha) transfer protein
|
TTR
|
transthyretin
|
TUB
|
tubby bipartite transcription factor
|
TUBA8
|
tubulin, alpha 8
|
TUBB
|
tubulin, beta class I
|
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
|
TYRP1
|
tyrosinase-related protein 1
|
UBE3B
|
ubiquitin protein ligase E3B
|
UCHL1
|
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
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)
|
VSX1
|
visual system homeobox 1
|
VSX2
|
visual system homeobox 2
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
WDR19
|
WD repeat domain 19
|
WDR34
|
WD repeat domain 34
|
WDR60
|
WD repeat domain 60
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
WRN
|
Werner syndrome, RecQ helicase-like
|
WWOX
|
WW domain containing oxidoreductase
|
YAP1
|
Yes-associated protein 1
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
ZNF423
|
zinc finger protein 423
|
ZNF469
|
zinc finger protein 469
|
ZNF513
|
zinc finger protein 513
|
ZNF592
|
zinc finger protein 592
|