| Symbol |
Name |
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ADAM9
|
ADAM metallopeptidase domain 9
|
|
ADCY5
|
adenylate cyclase 5
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
ADNP
|
activity-dependent neuroprotector homeobox
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
AGA
|
aspartylglucosaminidase
|
|
AGK
|
acylglycerol kinase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AIPL1
|
aryl hydrocarbon receptor interacting protein-like 1
|
|
AIRE
|
autoimmune regulator
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMT
|
aminomethyltransferase
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
AP4E1
|
adaptor-related protein complex 4, epsilon 1 subunit
|
|
AP4M1
|
adaptor-related protein complex 4, mu 1 subunit
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
ARG1
|
arginase 1
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARSA
|
arylsulfatase A
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASL
|
argininosuccinate lyase
|
|
ASPA
|
aspartoacylase
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ATP10A
|
ATPase, class V, type 10A
|
|
ATP13A2
|
ATPase type 13A2
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP5A1
|
ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
ATXN10
|
ataxin 10
|
|
AUH
|
AU RNA binding protein/enoyl-CoA hydratase
|
|
AVP
|
arginine vasopressin
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCKDHA
|
branched chain keto acid dehydrogenase E1, alpha polypeptide
|
|
BCKDHB
|
branched chain keto acid dehydrogenase E1, beta polypeptide
|
|
BCKDK
|
branched chain ketoacid dehydrogenase kinase
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BDNF
|
brain-derived neurotrophic factor
|
|
BEST1
|
bestrophin 1
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF11
|
chromosome 10 open reading frame 11
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
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
|
|
C9ORF72
|
chromosome 9 open reading frame 72
|
|
CA4
|
carbonic anhydrase IV
|
|
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
|
|
CASC5
|
cancer susceptibility candidate 5
|
|
CASR
|
calcium-sensing receptor
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D1A
|
coiled-coil and C2 domain containing 1A
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CDH23
|
cadherin-related 23
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CECR1
|
cat eye syndrome chromosome region, candidate 1
|
|
CEP152
|
centrosomal protein 152kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHMP2B
|
charged multivesicular body protein 2B
|
|
CHRNA2
|
cholinergic receptor, nicotinic, alpha 2 (neuronal)
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CHST6
|
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
|
|
CIB2
|
calcium and integrin binding family member 2
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLDN16
|
claudin 16
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN6
|
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
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
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COASY
|
CoA synthase
|
|
COG4
|
component of oligomeric golgi complex 4
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX10
|
COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
|
|
COX15
|
cytochrome c oxidase assembly homolog 15 (yeast)
|
|
COX2
|
|
|
COX3
|
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CREBBP
|
CREB binding protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CRX
|
cone-rod homeobox
|
|
CRYGC
|
crystallin, gamma C
|
|
CSF1R
|
colony stimulating factor 1 receptor
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSF
|
cathepsin F
|
|
CTSH
|
cathepsin H
|
|
CUL4B
|
cullin 4B
|
|
CYFIP1
|
cytoplasmic FMR1 interacting protein 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCTN1
|
dynactin 1
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DDC
|
dopa decarboxylase (aromatic L-amino acid decarboxylase)
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DEPDC5
|
DEP domain containing 5
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DISC2
|
disrupted in schizophrenia 2 (non-protein coding)
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJC5
|
DnaJ (Hsp40) homolog, subfamily C, member 5
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DRD2
|
dopamine receptor D2
|
|
DRD5
|
dopamine receptor D5
|
|
DSG4
|
desmoglein 4
|
|
DUOX2
|
dual oxidase 2
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
DYM
|
dymeclin
|
|
DYRK1A
|
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
|
|
ECM1
|
extracellular matrix protein 1
|
|
EDNRA
|
endothelin receptor type A
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 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
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
EPM2A
|
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FBP1
|
fructose-1,6-bisphosphatase 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF14
|
fibroblast growth factor 14
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOXC2
|
forkhead box C2
|
|
FOXE1
|
forkhead box E1
|
|
FOXG1
|
forkhead box G1
|
|
FOXP1
|
forkhead box P1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FTL
|
ferritin, light polypeptide
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GBA
|
glucosidase, beta, acid
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCDH
|
glutaryl-CoA dehydrogenase
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GFM1
|
G elongation factor, mitochondrial 1
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLRA1
|
glycine receptor, alpha 1
|
|
GLRB
|
glycine receptor, beta
|
|
GM2A
|
GM2 ganglioside activator
|
|
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
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GPHN
|
gephyrin
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
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)
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HBB
|
hemoglobin, beta
|
|
HCN1
|
hyperpolarization activated cyclic nucleotide gated potassium channel 1
|
|
HCRT
|
hypocretin (orexin) neuropeptide precursor
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HESX1
|
HESX homeobox 1
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HNF1B
|
HNF1 homeobox B
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HTT
|
huntingtin
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
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
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
IL23R
|
interleukin 23 receptor
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
ITM2B
|
integral membrane protein 2B
|
|
IYD
|
iodotyrosine deiodinase
|
|
JAK2
|
Janus kinase 2
|
|
JPH3
|
junctophilin 3
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNQ3
|
potassium channel, voltage gated KQT-like subfamily Q, member 3
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA2022
|
KIAA2022
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLHL7
|
kelch-like family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KPTN
|
kaptin (actin binding protein)
|
|
KRT81
|
keratin 81, type II
|
|
KRT83
|
keratin 83, type II
|
|
KRT86
|
keratin 86, type II
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LHX1
|
LIM homeobox 1
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
LIAS
|
lipoic acid synthetase
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LINS
|
lines homolog (Drosophila)
|
|
LMBRD1
|
LMBR1 domain containing 1
|
|
LMNB1
|
lamin B1
|
|
LOR
|
loricrin
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAK
|
male germ cell-associated kinase
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MAOA
|
monoamine oxidase A
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MAPT
|
microtubule-associated protein tau
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
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
|
|
MED12
|
mediator complex subunit 12
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MEFV
|
Mediterranean fever
|
|
MEIS2
|
Meis homeobox 2
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFSD8
|
major facilitator superfamily domain containing 8
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLH1
|
mutL homolog 1
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MOG
|
myelin oligodendrocyte glycoprotein
|
|
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-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MTPAP
|
mitochondrial poly(A) polymerase
|
|
MYO7A
|
myosin VIIA
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NAGS
|
N-acetylglutamate synthase
|
|
NALCN
|
sodium leak channel, non selective
|
|
NBN
|
nibrin
|
|
ND1
|
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFA10
|
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
|
|
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
|
|
NDUFAF2
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
|
|
NDUFAF6
|
NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
|
|
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)
|
|
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)
|
|
NEK2
|
NIMA-related kinase 2
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NHLRC1
|
NHL repeat containing E3 ubiquitin protein ligase 1
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NMNAT1
|
nicotinamide nucleotide adenylyltransferase 1
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOTCH3
|
notch 3
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHP3
|
nephronophthisis 3 (adolescent)
|
|
NPHP4
|
nephronophthisis 4
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NRL
|
neural retina leucine zipper
|
|
NRXN1
|
neurexin 1
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NTNG1
|
netrin G1
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NTRK2
|
neurotrophic tyrosine kinase, receptor, type 2
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
OPN1LW
|
opsin 1 (cone pigments), long-wave-sensitive
|
|
OPN1MW
|
opsin 1 (cone pigments), medium-wave-sensitive
|
|
OTC
|
ornithine carbamoyltransferase
|
|
OTX2
|
orthodenticle homeobox 2
|
|
P2RY11
|
purinergic receptor P2Y, G-protein coupled, 11
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PANK2
|
pantothenate kinase 2
|
|
PARK7
|
parkinson protein 7
|
|
PAX8
|
paired box 8
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCDH15
|
protocadherin-related 15
|
|
PCDH19
|
protocadherin 19
|
|
PCNA
|
proliferating cell nuclear antigen
|
|
PCNT
|
pericentrin
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
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
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDZD7
|
PDZ domain containing 7
|
|
PER2
|
period circadian clock 2
|
|
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
|
|
PGAP3
|
post-GPI attachment to proteins 3
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM1
|
phosphoglucomutase 1
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIKFYVE
|
phosphoinositide kinase, FYVE finger containing
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PITPNM3
|
PITPNM family member 3
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCD1
|
phospholipase C, delta 1
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNP
|
purine nucleoside phosphorylase
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POC1B
|
POC1 centriolar protein B
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLH
|
polymerase (DNA directed), eta
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PPP2R2B
|
protein phosphatase 2, regulatory subunit B, beta
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PREPL
|
prolyl endopeptidase-like
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCG
|
protein kinase C, gamma
|
|
PRNP
|
prion protein
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROM1
|
prominin 1
|
|
PROP1
|
PROP paired-like homeobox 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
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAB28
|
RAB28, member RAS oncogene family
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAI1
|
retinoic acid induced 1
|
|
RAX2
|
retina and anterior neural fold homeobox 2
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
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
|
|
RNF216
|
ring finger protein 216
|
|
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
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SATB2
|
SATB homeobox 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
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
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SEPT9
|
septin 9
|
|
SETD5
|
SET domain containing 5
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SH2B1
|
SH2B adaptor protein 1
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC19A3
|
solute carrier family 19 (thiamine transporter), member 3
|
|
SLC20A2
|
solute carrier family 20 (phosphate 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
|
|
SLC25A12
|
solute carrier family 25 (aspartate/glutamate carrier), member 12
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A3
|
solute carrier family 2 (facilitated glucose transporter), member 3
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC3A1
|
solute carrier family 3 (amino acid transporter heavy chain), member 1
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC5A2
|
solute carrier family 5 (sodium/glucose cotransporter), member 2
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SLITRK1
|
SLIT and NTRK-like family, member 1
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNCA
|
synuclein, alpha (non A4 component of amyloid precursor)
|
|
SNCB
|
synuclein, beta
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOBP
|
sine oculis binding protein homolog (Drosophila)
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPAST
|
spastin
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPG21
|
spastic paraplegia 21 (autosomal recessive, Mast syndrome)
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
ST14
|
suppression of tumorigenicity 14 (colon carcinoma)
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUOX
|
sulfite oxidase
|
|
SURF1
|
surfeit 1
|
|
SYN1
|
synapsin I
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TARDBP
|
TAR DNA binding protein
|
|
TAT
|
tyrosine aminotransferase
|
|
TAZ
|
tafazzin
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBP
|
TATA box binding protein
|
|
TBX1
|
T-box 1
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TCF12
|
transcription factor 12
|
|
TCF4
|
transcription factor 4
|
|
TCN2
|
transcobalamin II
|
|
TG
|
thyroglobulin
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TLR4
|
toll-like receptor 4
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TMLHE
|
trimethyllysine hydroxylase, epsilon
|
|
TNF
|
tumor necrosis factor
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF4
|
tumor necrosis factor (ligand) superfamily, member 4
|
|
TNXB
|
tenascin XB
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP63
|
tumor protein p63
|
|
TPO
|
thyroid peroxidase
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRHR
|
thyrotropin-releasing hormone receptor
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTC19
|
tetratricopeptide repeat domain 19
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTI2
|
TELO2 interacting protein 2
|
|
TUB
|
tubby bipartite transcription factor
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TULP1
|
tubby like protein 1
|
|
TYR
|
tyrosinase
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UNC119
|
unc-119 homolog (C. elegans)
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
UQCC2
|
ubiquinol-cytochrome c reductase complex assembly factor 2
|
|
UROC1
|
urocanate hydratase 1
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USH1C
|
Usher syndrome 1C (autosomal recessive, severe)
|
|
USH1G
|
Usher syndrome 1G (autosomal recessive)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
USP9X
|
ubiquitin specific peptidase 9, X-linked
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
WDR45
|
WD repeat domain 45
|
|
WDR62
|
WD repeat domain 62
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
|
ZFYVE26
|
zinc finger, FYVE domain containing 26
|
|
ZNF365
|
zinc finger protein 365
|
|
ZNF513
|
zinc finger protein 513
|
