| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AASS
|
aminoadipate-semialdehyde synthase
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACAT1
|
acetyl-CoA acetyltransferase 1
|
|
ACO2
|
aconitase 2, mitochondrial
|
|
ACOX1
|
acyl-CoA oxidase 1, palmitoyl
|
|
ACSL4
|
acyl-CoA synthetase long-chain family member 4
|
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAT3
|
adenosine deaminase, tRNA-specific 3
|
|
ADGRG1
|
adhesion G protein-coupled receptor G1
|
|
ADSL
|
adenylosuccinate lyase
|
|
AFF2
|
AF4/FMR2 family, member 2
|
|
AGA
|
aspartylglucosaminidase
|
|
AHCY
|
adenosylhomocysteinase
|
|
AHDC1
|
AT hook, DNA binding motif, containing 1
|
|
AHI1
|
Abelson helper integration site 1
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALDH4A1
|
aldehyde dehydrogenase 4 family, member A1
|
|
ALDH5A1
|
aldehyde dehydrogenase 5 family, member A1
|
|
ALDH7A1
|
aldehyde dehydrogenase 7 family, member A1
|
|
ALDOA
|
aldolase A, fructose-bisphosphate
|
|
ALDOB
|
aldolase B, fructose-bisphosphate
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALX1
|
ALX homeobox 1
|
|
ALX3
|
ALX homeobox 3
|
|
ALX4
|
ALX homeobox 4
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
AMT
|
aminomethyltransferase
|
|
ANK3
|
ankyrin 3, node of Ranvier (ankyrin G)
|
|
ANKRD11
|
ankyrin repeat domain 11
|
|
ANO10
|
anoctamin 10
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 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
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
ARG1
|
arginase 1
|
|
ARHGAP31
|
Rho GTPase activating protein 31
|
|
ARHGEF6
|
Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
|
|
ARHGEF9
|
Cdc42 guanine nucleotide exchange factor (GEF) 9
|
|
ARID1A
|
AT rich interactive domain 1A (SWI-like)
|
|
ARID1B
|
AT rich interactive domain 1B (SWI1-like)
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARSA
|
arylsulfatase A
|
|
ARX
|
aristaless related homeobox
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ASL
|
argininosuccinate lyase
|
|
ASPM
|
asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
|
|
ASS1
|
argininosuccinate synthase 1
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATIC
|
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
|
|
ATL1
|
atlastin GTPase 1
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP5E
|
ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
|
|
ATP6AP2
|
ATPase, H+ transporting, lysosomal accessory protein 2
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP8A2
|
ATPase, aminophospholipid transporter, class I, type 8A, member 2
|
|
ATR
|
ATR serine/threonine kinase
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B4GALNT1
|
beta-1,4-N-acetyl-galactosaminyl transferase 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
|
|
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
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BIN1
|
bridging integrator 1
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
C12ORF65
|
chromosome 12 open reading frame 65
|
|
C2CD3
|
C2 calcium-dependent domain containing 3
|
|
CA2
|
carbonic anhydrase II
|
|
CA8
|
carbonic anhydrase VIII
|
|
CACNG2
|
calcium channel, voltage-dependent, gamma subunit 2
|
|
CAMTA1
|
calmodulin binding transcription activator 1
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASC5
|
cancer susceptibility candidate 5
|
|
CASK
|
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
|
|
CBS
|
cystathionine-beta-synthase
|
|
CC2D1A
|
coiled-coil and C2 domain containing 1A
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC88C
|
coiled-coil domain containing 88C
|
|
CDH15
|
cadherin 15, type 1, M-cadherin (myotubule)
|
|
CDK5RAP2
|
CDK5 regulatory subunit associated protein 2
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CENPJ
|
centromere protein J
|
|
CEP135
|
centrosomal protein 135kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CEP83
|
centrosomal protein 83kDa
|
|
CHD2
|
chromodomain helicase DNA binding protein 2
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHKB
|
choline kinase beta
|
|
CHMP1A
|
charged multivesicular body protein 1A
|
|
CHRNA4
|
cholinergic receptor, nicotinic, alpha 4 (neuronal)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLIC2
|
chloride intracellular channel 2
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CLN5
|
ceroid-lipofuscinosis, neuronal 5
|
|
CLN8
|
ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
|
|
CNTNAP2
|
contactin associated protein-like 2
|
|
COA5
|
cytochrome c oxidase assembly factor 5
|
|
COG5
|
component of oligomeric golgi complex 5
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COLEC11
|
collectin sub-family member 11
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
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)
|
|
COX20
|
COX20 cytochrome c oxidase assembly factor
|
|
COX6B1
|
cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
|
|
CPS1
|
carbamoyl-phosphate synthase 1, mitochondrial
|
|
CRADD
|
CASP2 and RIPK1 domain containing adaptor with death domain
|
|
CRBN
|
cereblon
|
|
CREBBP
|
CREB binding protein
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTCF
|
CCCTC-binding factor (zinc finger protein)
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTNNB1
|
catenin (cadherin-associated protein), beta 1, 88kDa
|
|
CTSA
|
cathepsin A
|
|
CTSD
|
cathepsin D
|
|
CUL4B
|
cullin 4B
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
CYP24A1
|
cytochrome P450, family 24, subfamily A, polypeptide 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
D2HGDH
|
D-2-hydroxyglutarate dehydrogenase
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DARS
|
aspartyl-tRNA synthetase
|
|
DBT
|
dihydrolipoamide branched chain transacylase E2
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DCX
|
doublecortin
|
|
DDHD2
|
DDHD domain containing 2
|
|
DDX11
|
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
|
|
DDX59
|
DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
|
|
DEAF1
|
DEAF1 transcription factor
|
|
DEPDC5
|
DEP domain containing 5
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
|
DIP2B
|
DIP2 disco-interacting protein 2 homolog B (Drosophila)
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLAT
|
dihydrolipoamide S-acetyltransferase
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNAJC6
|
DnaJ (Hsp40) homolog, subfamily C, member 6
|
|
DNMT3B
|
DNA (cytosine-5-)-methyltransferase 3 beta
|
|
DOCK8
|
dedicator of cytokinesis 8
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPYD
|
dihydropyrimidine dehydrogenase
|
|
DPYS
|
dihydropyrimidinase
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
EGF
|
epidermal growth factor
|
|
EHMT1
|
euchromatic histone-lysine N-methyltransferase 1
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
EP300
|
E1A binding protein p300
|
|
EPB41L1
|
erythrocyte membrane protein band 4.1-like 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ERLIN2
|
ER lipid raft associated 2
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
ETHE1
|
ethylmalonic encephalopathy 1
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FA2H
|
fatty acid 2-hydroxylase
|
|
FAM126A
|
family with sequence similarity 126, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FASTKD2
|
FAST kinase domains 2
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 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
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOLR1
|
folate receptor 1 (adult)
|
|
FOXG1
|
forkhead box G1
|
|
FOXP1
|
forkhead box P1
|
|
FOXRED1
|
FAD-dependent oxidoreductase domain containing 1
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
FTCD
|
formimidoyltransferase cyclodeaminase
|
|
FTSJ1
|
FtsJ RNA methyltransferase homolog 1 (E. coli)
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GAD1
|
glutamate decarboxylase 1 (brain, 67kDa)
|
|
GALE
|
UDP-galactose-4-epimerase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GAMT
|
guanidinoacetate N-methyltransferase
|
|
GAN
|
gigaxonin
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATM
|
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCSH
|
glycine cleavage system protein H (aminomethyl carrier)
|
|
GDI1
|
GDP dissociation inhibitor 1
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GK
|
glycerol kinase
|
|
GLB1
|
galactosidase, beta 1
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GLYCTK
|
glycerate kinase
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GPI
|
glucose-6-phosphate isomerase
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
GRIK2
|
glutamate receptor, ionotropic, kainate 2
|
|
GRIN1
|
glutamate receptor, ionotropic, N-methyl D-aspartate 1
|
|
GRIN2A
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
|
|
GRIN2B
|
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
GRM1
|
glutamate receptor, metabotropic 1
|
|
GSS
|
glutathione synthetase
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
GUCY2D
|
guanylate cyclase 2D, membrane (retina-specific)
|
|
GUSB
|
glucuronidase, beta
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HCCS
|
holocytochrome c synthase
|
|
HCFC1
|
host cell factor C1
|
|
HCN1
|
hyperpolarization activated cyclic nucleotide gated potassium channel 1
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC6
|
histone deacetylase 6
|
|
HDAC8
|
histone deacetylase 8
|
|
HEPACAM
|
hepatic and glial cell adhesion molecule
|
|
HERC2
|
HECT and RLD domain containing E3 ubiquitin protein ligase 2
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HMGB3
|
high mobility group box 3
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSPD1
|
heat shock 60kDa protein 1 (chaperonin)
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
HUWE1
|
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT27
|
intraflagellar transport 27
|
|
IGBP1
|
immunoglobulin (CD79A) binding protein 1
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
IQSEC2
|
IQ motif and Sec7 domain 2
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA7
|
integrin, alpha 7
|
|
IYD
|
iodotyrosine deiodinase
|
|
JAG1
|
jagged 1
|
|
KANK1
|
KN motif and ankyrin repeat domains 1
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNC3
|
potassium channel, voltage gated Shaw related subfamily C, member 3
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNK9
|
potassium channel, two pore domain subfamily K, member 9
|
|
KCNQ2
|
potassium channel, voltage gated KQT-like subfamily Q, member 2
|
|
KCNT1
|
potassium channel, sodium activated subfamily T, member 1
|
|
KCTD7
|
potassium channel tetramerization domain containing 7
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIAA0226
|
KIAA0226
|
|
KIAA2022
|
KIAA2022
|
|
KIF11
|
kinesin family member 11
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1BP
|
KIF1 binding protein
|
|
KIF4A
|
kinesin family member 4A
|
|
KIF7
|
kinesin family member 7
|
|
KIRREL3
|
kin of IRRE like 3 (Drosophila)
|
|
KMT2A
|
lysine (K)-specific methyltransferase 2A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
L2HGDH
|
L-2-hydroxyglutarate dehydrogenase
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LARP7
|
La ribonucleoprotein domain family, member 7
|
|
LBR
|
lamin B receptor
|
|
LHX3
|
LIM homeobox 3
|
|
LMNA
|
lamin A/C
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
LYST
|
lysosomal trafficking regulator
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MAN2B1
|
mannosidase, alpha, class 2B, member 1
|
|
MANBA
|
mannosidase, beta A, lysosomal
|
|
MAOA
|
monoamine oxidase A
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MAT1A
|
methionine adenosyltransferase I, alpha
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MCCC1
|
methylcrotonoyl-CoA carboxylase 1 (alpha)
|
|
MCOLN1
|
mucolipin 1
|
|
MCPH1
|
microcephalin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MED23
|
mediator complex subunit 23
|
|
MEF2C
|
myocyte enhancer factor 2C
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MGP
|
matrix Gla protein
|
|
MID2
|
midline 2
|
|
MIR17HG
|
miR-17-92 cluster host gene
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLC1
|
megalencephalic leukoencephalopathy with subcortical cysts 1
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
|
MTR
|
5-methyltetrahydrofolate-homocysteine methyltransferase
|
|
MTRR
|
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
|
|
MYCN
|
v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NBN
|
nibrin
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
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)
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NHS
|
Nance-Horan syndrome (congenital cataracts and dental anomalies)
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NPC1
|
Niemann-Pick disease, type C1
|
|
NPC2
|
Niemann-Pick disease, type C2
|
|
NR2F1
|
nuclear receptor subfamily 2, group F, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
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
|
|
NT5C2
|
5'-nucleotidase, cytosolic II
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NUP62
|
nucleoporin 62kDa
|
|
OCLN
|
occludin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OPHN1
|
oligophrenin 1
|
|
ORC1
|
origin recognition complex, subunit 1
|
|
OTC
|
ornithine carbamoyltransferase
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAK3
|
p21 protein (Cdc42/Rac)-activated kinase 3
|
|
PAX1
|
paired box 1
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PC
|
pyruvate carboxylase
|
|
PCNT
|
pericentrin
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PDHX
|
pyruvate dehydrogenase complex, component X
|
|
PDP1
|
pyruvate dehyrogenase phosphatase catalytic subunit 1
|
|
PDSS1
|
prenyl (decaprenyl) diphosphate synthase, subunit 1
|
|
PET100
|
PET100 homolog (S. cerevisiae)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PGAP2
|
post-GPI attachment to proteins 2
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PGM3
|
phosphoglucomutase 3
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIGV
|
phosphatidylinositol glycan anchor biosynthesis, class V
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PNKP
|
polynucleotide kinase 3'-phosphatase
|
|
PNP
|
purine nucleoside phosphorylase
|
|
POLA1
|
polymerase (DNA directed), alpha 1, catalytic subunit
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPT1
|
palmitoyl-protein thioesterase 1
|
|
PQBP1
|
polyglutamine binding protein 1
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRODH
|
proline dehydrogenase (oxidase) 1
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRSS12
|
protease, serine, 12 (neurotrypsin, motopsin)
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTS
|
6-pyruvoyltetrahydropterin synthase
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RAB18
|
RAB18, member RAS oncogene family
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB39B
|
RAB39B, member RAS oncogene family
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD50
|
RAD50 homolog (S. cerevisiae)
|
|
RAI1
|
retinoic acid induced 1
|
|
RARB
|
retinoic acid receptor, beta
|
|
RBBP8
|
retinoblastoma binding protein 8
|
|
RBM28
|
RNA binding motif protein 28
|
|
RECQL4
|
RecQ protein-like 4
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RPE65
|
retinal pigment epithelium-specific protein 65kDa
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RPS19
|
ribosomal protein S19
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTTN
|
rotatin
|
|
SACS
|
sacsin molecular chaperone
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
|
SATB2
|
SATB homeobox 2
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCN8A
|
sodium channel, voltage gated, type VIII alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SERAC1
|
serine active site containing 1
|
|
SETBP1
|
SET binding protein 1
|
|
SFXN4
|
sideroflexin 4
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SHH
|
sonic hedgehog
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SHROOM4
|
shroom family member 4
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX3
|
SIX homeobox 3
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A6
|
solute carrier family 12 (potassium/chloride transporter), member 6
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC25A15
|
solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC2A1
|
solute carrier family 2 (facilitated glucose transporter), member 1
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC35A3
|
solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
|
|
SLC35C1
|
solute carrier family 35 (GDP-fucose transporter), member C1
|
|
SLC36A2
|
solute carrier family 36 (proton/amino acid symporter), member 2
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A20
|
solute carrier family 6 (proline IMINO transporter), member 20
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCA2
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SMOC1
|
SPARC related modular calcium binding 1
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SMS
|
spermine synthase
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SOBP
|
sine oculis binding protein homolog (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SPR
|
sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
SRPX2
|
sushi-repeat containing protein, X-linked 2
|
|
ST3GAL3
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STIL
|
SCL/TAL1 interrupting locus
|
|
STRA6
|
stimulated by retinoic acid 6
|
|
STT3A
|
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STT3B
|
STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
|
|
STXBP1
|
syntaxin binding protein 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUCLG1
|
succinate-CoA ligase, alpha subunit
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
SURF1
|
surfeit 1
|
|
SYNGAP1
|
synaptic Ras GTPase activating protein 1
|
|
SYP
|
synaptophysin
|
|
TAC3
|
tachykinin 3
|
|
TACO1
|
translational activator of mitochondrially encoded cytochrome c oxidase I
|
|
TAF2
|
TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
|
|
TAT
|
tyrosine aminotransferase
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBC1D24
|
TBC1 domain family, member 24
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBX1
|
T-box 1
|
|
TCF4
|
transcription factor 4
|
|
TCN2
|
transcobalamin II
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN3
|
tectonic family member 3
|
|
TECR
|
trans-2,3-enoyl-CoA reductase
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TFAP2B
|
transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
|
|
TG
|
thyroglobulin
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
THOC6
|
THO complex 6
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TMLHE
|
trimethyllysine hydroxylase, epsilon
|
|
TP63
|
tumor protein p63
|
|
TRAPPC9
|
trafficking protein particle complex 9
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TRH
|
thyrotropin-releasing hormone
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRMT10A
|
tRNA methyltransferase 10 homolog A (S. cerevisiae)
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TSPAN7
|
tetraspanin 7
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTI2
|
TELO2 interacting protein 2
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
TUBA8
|
tubulin, alpha 8
|
|
TUBB2B
|
tubulin, beta 2B class IIb
|
|
TUBB3
|
tubulin, beta 3 class III
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TUSC3
|
tumor suppressor candidate 3
|
|
TWIST1
|
twist family bHLH transcription factor 1
|
|
UBB
|
ubiquitin B
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UBE3B
|
ubiquitin protein ligase E3B
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
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UPB1
|
ureidopropionase, beta
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UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
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UQCRQ
|
ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
|
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UROC1
|
urocanate hydratase 1
|
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USP9X
|
ubiquitin specific peptidase 9, X-linked
|
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VLDLR
|
very low density lipoprotein receptor
|
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VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
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VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
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VRK1
|
vaccinia related kinase 1
|
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WDPCP
|
WD repeat containing planar cell polarity effector
|
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WDR45
|
WD repeat domain 45
|
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WDR62
|
WD repeat domain 62
|
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WDR81
|
WD repeat domain 81
|
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WFS1
|
Wolfram syndrome 1 (wolframin)
|
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WNT5A
|
wingless-type MMTV integration site family, member 5A
|
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WWOX
|
WW domain containing oxidoreductase
|
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XPA
|
xeroderma pigmentosum, complementation group A
|
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XPNPEP3
|
X-prolyl aminopeptidase 3, mitochondrial
|
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XYLT1
|
xylosyltransferase I
|
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YAP1
|
Yes-associated protein 1
|
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ZBTB16
|
zinc finger and BTB domain containing 16
|
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ZBTB18
|
zinc finger and BTB domain containing 18
|
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ZBTB20
|
zinc finger and BTB domain containing 20
|
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ZBTB24
|
zinc finger and BTB domain containing 24
|
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ZC4H2
|
zinc finger, C4H2 domain containing
|
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ZDHHC15
|
zinc finger, DHHC-type containing 15
|
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ZDHHC9
|
zinc finger, DHHC-type containing 9
|
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ZEB2
|
zinc finger E-box binding homeobox 2
|
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ZFYVE26
|
zinc finger, FYVE domain containing 26
|
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ZIC2
|
Zic family member 2
|
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ZNF592
|
zinc finger protein 592
|
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ZNF711
|
zinc finger protein 711
|
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ZNF81
|
zinc finger protein 81
|
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ZSWIM6
|
zinc finger, SWIM-type containing 6
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