| Symbol |
Name |
|
A2ML1
|
alpha-2-macroglobulin-like 1
|
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AAGAB
|
alpha- and gamma-adaptin binding protein
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCA12
|
ATP-binding cassette, sub-family A (ABC1), member 12
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB6
|
ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTN2
|
actinin, alpha 2
|
|
ADA
|
adenosine deaminase
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AIRE
|
autoimmune regulator
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
AKT2
|
v-akt murine thymoma viral oncogene homolog 2
|
|
AKT3
|
v-akt murine thymoma viral oncogene homolog 3
|
|
ALAD
|
aminolevulinate dehydratase
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDH18A1
|
aldehyde dehydrogenase 18 family, member A1
|
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALOX12B
|
arachidonate 12-lipoxygenase, 12R type
|
|
ALOXE3
|
arachidonate lipoxygenase 3
|
|
ANOS1
|
anosmin 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
APCDD1
|
adenomatosis polyposis coli down-regulated 1
|
|
APOE
|
apolipoprotein E
|
|
AQP5
|
aquaporin 5
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ATL3
|
atlastin GTPase 3
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP2C1
|
ATPase, Ca++ transporting, type 2C, member 1
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCL11A
|
B-cell CLL/lymphoma 11A (zinc finger protein)
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BLOC1S3
|
biogenesis of lysosomal organelles complex-1, subunit 3
|
|
BLOC1S6
|
biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BTD
|
biotinidase
|
|
BTK
|
Bruton agammaglobulinemia tyrosine kinase
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
C15ORF41
|
chromosome 15 open reading frame 41
|
|
C4A
|
complement component 4A (Rodgers blood group)
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CARD14
|
caspase recruitment domain family, member 14
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CBS
|
cystathionine-beta-synthase
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CD96
|
CD96 molecule
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDK4
|
cyclin-dependent kinase 4
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2D
|
cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CERS3
|
ceramide synthase 3
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHKB
|
choline kinase beta
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHRNA7
|
cholinergic receptor, nicotinic, alpha 7 (neuronal)
|
|
CHST14
|
carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
|
|
CIDEC
|
cell death-inducing DFFA-like effector c
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLDN1
|
claudin 1
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL14A1
|
collagen, type XIV, alpha 1
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COL5A1
|
collagen, type V, alpha 1
|
|
COL5A2
|
collagen, type V, alpha 2
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CPOX
|
coproporphyrinogen oxidase
|
|
CRX
|
cone-rod homeobox
|
|
CRYAB
|
crystallin, alpha B
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CSTA
|
cystatin A (stefin A)
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTGF
|
connective tissue growth factor
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CTSC
|
cathepsin C
|
|
CUL4B
|
cullin 4B
|
|
CYBA
|
cytochrome b-245, alpha polypeptide
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP4F22
|
cytochrome P450, family 4, subfamily F, polypeptide 22
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DES
|
desmin
|
|
DHFR
|
dihydrofolate reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DMD
|
dystrophin
|
|
DNASE1L3
|
deoxyribonuclease I-like 3
|
|
DOLK
|
dolichol kinase
|
|
DSC2
|
desmocollin 2
|
|
DSG1
|
desmoglein 1
|
|
DSG2
|
desmoglein 2
|
|
DSG4
|
desmoglein 4
|
|
DSP
|
desmoplakin
|
|
DST
|
dystonin
|
|
DTNBP1
|
dystrobrevin binding protein 1
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ECM1
|
extracellular matrix protein 1
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDARADD
|
EDAR-associated death domain
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
ELN
|
elastin
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
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
|
|
ERF
|
Ets2 repressor factor
|
|
EXPH5
|
exophilin 5
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FAM111B
|
family with sequence similarity 111, member B
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FERMT1
|
fermitin family member 1
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF20
|
fibroblast growth factor 20
|
|
FGF3
|
fibroblast growth factor 3
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FH
|
fumarate hydratase
|
|
FHL2
|
four and a half LIM domains 2
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FKTN
|
fukutin
|
|
FLG
|
filaggrin
|
|
FLNA
|
filamin A, alpha
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FLT4
|
fms-related tyrosine kinase 4
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXC1
|
forkhead box C1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA2
|
GATA binding protein 2
|
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
GBA
|
glucosidase, beta, acid
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLA
|
galactosidase, alpha
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GPR143
|
G protein-coupled receptor 143
|
|
GSN
|
gelsolin
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HBG1
|
hemoglobin, gamma A
|
|
HBG2
|
hemoglobin, gamma G
|
|
HCCS
|
holocytochrome c synthase
|
|
HDAC6
|
histone deacetylase 6
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HLA-B
|
major histocompatibility complex, class I, B
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRA
|
major histocompatibility complex, class II, DR alpha
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HLCS
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HPS1
|
Hermansky-Pudlak syndrome 1
|
|
HPS4
|
Hermansky-Pudlak syndrome 4
|
|
HPS5
|
Hermansky-Pudlak syndrome 5
|
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD11B1
|
hydroxysteroid (11-beta) dehydrogenase 1
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT43
|
intraflagellar transport 43
|
|
IGHV4-34
|
immunoglobulin heavy variable 4-34
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL10
|
interleukin 10
|
|
IL12RB2
|
interleukin 12 receptor, beta 2
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IL1RN
|
interleukin 1 receptor antagonist
|
|
IL23R
|
interleukin 23 receptor
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL36RN
|
interleukin 36 receptor antagonist
|
|
IL7R
|
interleukin 7 receptor
|
|
INSR
|
insulin receptor
|
|
IRF5
|
interferon regulatory factor 5
|
|
ITGA3
|
integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGB4
|
integrin, beta 4
|
|
JUP
|
junction plakoglobin
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
KIAA0319L
|
KIAA0319-like
|
|
KIF11
|
kinesin family member 11
|
|
KIF22
|
kinesin family member 22
|
|
KISS1R
|
KISS1 receptor
|
|
KIT
|
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
|
KITLG
|
KIT ligand
|
|
KLF1
|
Kruppel-like factor 1 (erythroid)
|
|
KLHL7
|
kelch-like family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRT1
|
keratin 1, type II
|
|
KRT10
|
keratin 10, type I
|
|
KRT14
|
keratin 14, type I
|
|
KRT16
|
keratin 16, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT2
|
keratin 2, type II
|
|
KRT5
|
keratin 5, type II
|
|
KRT6A
|
keratin 6A, type II
|
|
KRT6B
|
keratin 6B, type II
|
|
KRT6C
|
keratin 6C, type II
|
|
KRT81
|
keratin 81, type II
|
|
KRT83
|
keratin 83, type II
|
|
KRT86
|
keratin 86, type II
|
|
KRT9
|
keratin 9, type I
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMA4
|
laminin, alpha 4
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LAMTOR2
|
late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
|
|
LBR
|
lamin B receptor
|
|
LDB3
|
LIM domain binding 3
|
|
LEMD3
|
LEM domain containing 3
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LIPH
|
lipase, member H
|
|
LIPN
|
lipase, family member N
|
|
LMNA
|
lamin A/C
|
|
LOR
|
loricrin
|
|
LPAR6
|
lysophosphatidic acid receptor 6
|
|
LPIN2
|
lipin 2
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LTBP2
|
latent transforming growth factor beta binding protein 2
|
|
LTBP4
|
latent transforming growth factor beta binding protein 4
|
|
LYST
|
lysosomal trafficking regulator
|
|
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)
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MCOLN1
|
mucolipin 1
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MED12
|
mediator complex subunit 12
|
|
MEFV
|
Mediterranean fever
|
|
MEGF8
|
multiple EGF-like-domains 8
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MFRP
|
membrane frizzled-related protein
|
|
MGP
|
matrix Gla protein
|
|
MITF
|
microphthalmia-associated transcription factor
|
|
MLH1
|
mutL homolog 1
|
|
MLPH
|
melanophilin
|
|
MMACHC
|
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
|
|
MMADHC
|
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MPL
|
MPL proto-oncogene, thrombopoietin receptor
|
|
MPST
|
mercaptopyruvate sulfurtransferase
|
|
MRAP
|
melanocortin 2 receptor accessory protein
|
|
MRPS16
|
mitochondrial ribosomal protein S16
|
|
MRPS22
|
mitochondrial ribosomal protein S22
|
|
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
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
MVK
|
mevalonate kinase
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYD88
|
myeloid differentiation primary response 88
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
MYPN
|
myopalladin
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NBAS
|
neuroblastoma amplified sequence
|
|
NBN
|
nibrin
|
|
NCF1
|
neutrophil cytosolic factor 1
|
|
NCF2
|
neutrophil cytosolic factor 2
|
|
NCF4
|
neutrophil cytosolic factor 4, 40kDa
|
|
ND1
|
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NEXN
|
nexilin (F actin binding protein)
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NLRP1
|
NLR family, pyrin domain containing 1
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH2
|
notch 2
|
|
NOTCH3
|
notch 3
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OCA2
|
oculocutaneous albinism II
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OSMR
|
oncostatin M receptor
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PAH
|
phenylalanine hydroxylase
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PANK2
|
pantothenate kinase 2
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
PAX6
|
paired box 6
|
|
PAX8
|
paired box 8
|
|
PCNT
|
pericentrin
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRA
|
platelet-derived growth factor receptor, alpha polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PEPD
|
peptidase D
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX10
|
peroxisomal biogenesis factor 10
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PEX13
|
peroxisomal biogenesis factor 13
|
|
PEX14
|
peroxisomal biogenesis factor 14
|
|
PEX16
|
peroxisomal biogenesis factor 16
|
|
PEX19
|
peroxisomal biogenesis factor 19
|
|
PEX2
|
peroxisomal biogenesis factor 2
|
|
PEX26
|
peroxisomal biogenesis factor 26
|
|
PEX3
|
peroxisomal biogenesis factor 3
|
|
PEX5
|
peroxisomal biogenesis factor 5
|
|
PEX6
|
peroxisomal biogenesis factor 6
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO1
|
piezo-type mechanosensitive ion channel component 1
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PIGL
|
phosphatidylinositol glycan anchor biosynthesis, class L
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
PKP1
|
plakophilin 1
|
|
PLCG2
|
phospholipase C, gamma 2 (phosphatidylinositol-specific)
|
|
PLEC
|
plectin
|
|
PLIN1
|
perilipin 1
|
|
PLN
|
phospholamban
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNPLA1
|
patatin-like phospholipase domain containing 1
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLH
|
polymerase (DNA directed), eta
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMP
|
proteasome maturation protein
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
POT1
|
protection of telomeres 1
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPOX
|
protoporphyrinogen oxidase
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PROC
|
protein C (inactivator of coagulation factors Va and VIIIa)
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PROS1
|
protein S (alpha)
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTCH1
|
patched 1
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PVRL4
|
poliovirus receptor-related 4
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB27A
|
RAB27A, member RAS oncogene family
|
|
RAD51C
|
RAD51 paralog C
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RBM20
|
RNA binding motif protein 20
|
|
RBM28
|
RNA binding motif protein 28
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RHBDF2
|
rhomboid 5 homolog 2 (Drosophila)
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RNF168
|
ring finger protein 168, E3 ubiquitin protein ligase
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RPL11
|
ribosomal protein L11
|
|
RPL15
|
ribosomal protein L15
|
|
RPL21
|
ribosomal protein L21
|
|
RPL26
|
ribosomal protein L26
|
|
RPL35A
|
ribosomal protein L35a
|
|
RPL5
|
ribosomal protein L5
|
|
RPS10
|
ribosomal protein S10
|
|
RPS17
|
ribosomal protein S17
|
|
RPS19
|
ribosomal protein S19
|
|
RPS24
|
ribosomal protein S24
|
|
RPS26
|
ribosomal protein S26
|
|
RPS29
|
ribosomal protein S29
|
|
RPS6KA3
|
ribosomal protein S6 kinase, 90kDa, polypeptide 3
|
|
RPS7
|
ribosomal protein S7
|
|
RSPO1
|
R-spondin 1
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SART3
|
squamous cell carcinoma antigen recognized by T cells 3
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCN5A
|
sodium channel, voltage gated, type V 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
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SEMA4A
|
sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
|
|
SERPINB7
|
serpin peptidase inhibitor, clade B (ovalbumin), member 7
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SH3BP2
|
SH3-domain binding protein 2
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SKI
|
SKI proto-oncogene
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC27A4
|
solute carrier family 27 (fatty acid transporter), member 4
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC40A1
|
solute carrier family 40 (iron-regulated transporter), member 1
|
|
SLC45A2
|
solute carrier family 45, member 2
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC6A19
|
solute carrier family 6 (neutral amino acid transporter), member 19
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLCO1B1
|
solute carrier organic anion transporter family, member 1B1
|
|
SLCO1B3
|
solute carrier organic anion transporter family, member 1B3
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCAD1
|
SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SNAI2
|
snail family zinc finger 2
|
|
SNAP29
|
synaptosomal-associated protein, 29kDa
|
|
SNRPE
|
small nuclear ribonucleoprotein polypeptide E
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNX10
|
sorting nexin 10
|
|
SOS1
|
son of sevenless homolog 1 (Drosophila)
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPINK5
|
serine peptidase inhibitor, Kazal type 5
|
|
SPRED1
|
sprouty-related, EVH1 domain containing 1
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
ST14
|
suppression of tumorigenicity 14 (colon carcinoma)
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STAT4
|
signal transducer and activator of transcription 4
|
|
STIM1
|
stromal interaction molecule 1
|
|
STK11
|
serine/threonine kinase 11
|
|
STS
|
steroid sulfatase (microsomal), isozyme S
|
|
SUMF1
|
sulfatase modifying factor 1
|
|
TACR3
|
tachykinin receptor 3
|
|
TAT
|
tyrosine aminotransferase
|
|
TAZ
|
tafazzin
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCAP
|
titin-cap
|
|
TCF4
|
transcription factor 4
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TFR2
|
transferrin receptor 2
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TGM1
|
transglutaminase 1
|
|
TGM5
|
transglutaminase 5
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TLR4
|
toll-like receptor 4
|
|
TMC6
|
transmembrane channel-like 6
|
|
TMC8
|
transmembrane channel-like 8
|
|
TMPO
|
thymopoietin
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TNNC1
|
troponin C type 1 (slow)
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TNXB
|
tenascin XB
|
|
TP63
|
tumor protein p63
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TRAF6
|
TNF receptor-associated factor 6, E3 ubiquitin protein ligase
|
|
TRH
|
thyrotropin-releasing hormone
|
|
TRPM1
|
transient receptor potential cation channel, subfamily M, member 1
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV3
|
transient receptor potential cation channel, subfamily V, member 3
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TTN
|
titin
|
|
TUBGCP6
|
tubulin, gamma complex associated protein 6
|
|
TWIST2
|
twist family bHLH transcription factor 2
|
|
TXNRD2
|
thioredoxin reductase 2
|
|
TYR
|
tyrosinase
|
|
TYRP1
|
tyrosinase-related protein 1
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
UBE3A
|
ubiquitin protein ligase E3A
|
|
UROD
|
uroporphyrinogen decarboxylase
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
UVSSA
|
UV-stimulated scaffold protein A
|
|
VCL
|
vinculin
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
WDR11
|
WD repeat domain 11
|
|
WDR19
|
WD repeat domain 19
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
XPA
|
xeroderma pigmentosum, complementation group A
|
|
XPC
|
xeroderma pigmentosum, complementation group C
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF469
|
zinc finger protein 469
|
|
ZNF750
|
zinc finger protein 750
|
