| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCD1
|
ATP-binding cassette, sub-family D (ALD), member 1
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ADA
|
adenosine deaminase
|
|
AGGF1
|
angiogenic factor with G patch and FHA domains 1
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AHI1
|
Abelson helper integration site 1
|
|
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
|
|
ALAS2
|
5'-aminolevulinate synthase 2
|
|
ALDOA
|
aldolase A, fructose-bisphosphate
|
|
ALG1
|
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
AMH
|
anti-Mullerian hormone
|
|
AMHR2
|
anti-Mullerian hormone receptor, type II
|
|
ANK1
|
ankyrin 1, erythrocytic
|
|
ANOS1
|
anosmin 1
|
|
ANTXR1
|
anthrax toxin receptor 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AP2S1
|
adaptor-related protein complex 2, sigma 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AR
|
androgen receptor
|
|
ARL13B
|
ADP-ribosylation factor-like 13B
|
|
ARL2BP
|
ADP-ribosylation factor-like 2 binding protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ARNT2
|
aryl-hydrocarbon receptor nuclear translocator 2
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATRX
|
alpha thalassemia/mental retardation syndrome X-linked
|
|
AVP
|
arginine vasopressin
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
B9D1
|
B9 protein domain 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
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
|
|
BCS1L
|
BC1 (ubiquinol-cytochrome c reductase) synthesis-like
|
|
BEST1
|
bestrophin 1
|
|
BIRC3
|
baculoviral IAP repeat containing 3
|
|
BLK
|
BLK proto-oncogene, Src family tyrosine kinase
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
BSND
|
barttin CLCNK-type chloride channel accessory beta subunit
|
|
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
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
C1S
|
complement component 1, s subcomponent
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
C5ORF42
|
chromosome 5 open reading frame 42
|
|
C8ORF37
|
chromosome 8 open reading frame 37
|
|
CA4
|
carbonic anhydrase IV
|
|
CACNA1D
|
calcium channel, voltage-dependent, L type, alpha 1D subunit
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CCDC22
|
coiled-coil domain containing 22
|
|
CCDC6
|
coiled-coil domain containing 6
|
|
CD36
|
CD36 molecule (thrombospondin receptor)
|
|
CDC73
|
cell division cycle 73
|
|
CDHR1
|
cadherin-related family member 1
|
|
CDKN1A
|
cyclin-dependent kinase inhibitor 1A (p21, Cip1)
|
|
CDKN1B
|
cyclin-dependent kinase inhibitor 1B (p27, Kip1)
|
|
CDKN1C
|
cyclin-dependent kinase inhibitor 1C (p57, Kip2)
|
|
CDKN2B
|
cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
|
|
CDKN2C
|
cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
|
|
CEL
|
carboxyl ester lipase
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP41
|
centrosomal protein 41kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CERKL
|
ceramide kinase-like
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHEK2
|
checkpoint kinase 2
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLCNKA
|
chloride channel, voltage-sensitive Ka
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CLPP
|
caseinolytic mitochondrial matrix peptidase proteolytic subunit
|
|
CLRN1
|
clarin 1
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNGA1
|
cyclic nucleotide gated channel alpha 1
|
|
CNGB1
|
cyclic nucleotide gated channel beta 1
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COMT
|
catechol-O-methyltransferase
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CP
|
ceruloplasmin (ferroxidase)
|
|
CRB1
|
crumbs family member 1, photoreceptor morphogenesis associated
|
|
CREBBP
|
CREB binding protein
|
|
CRH
|
corticotropin releasing hormone
|
|
CRX
|
cone-rod homeobox
|
|
CSPP1
|
centrosome and spindle pole associated protein 1
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTLA4
|
cytotoxic T-lymphocyte-associated protein 4
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CUL4B
|
cullin 4B
|
|
CYP11A1
|
cytochrome P450, family 11, subfamily A, polypeptide 1
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP11B2
|
cytochrome P450, family 11, subfamily B, polypeptide 2
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
DCAF17
|
DDB1 and CUL4 associated factor 17
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHDDS
|
dehydrodolichyl diphosphate synthase
|
|
DHH
|
desert hedgehog
|
|
DICER1
|
dicer 1, ribonuclease type III
|
|
DIO1
|
deiodinase, iodothyronine, type I
|
|
DIS3L2
|
DIS3 like 3'-5' exoribonuclease 2
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DUOX2
|
dual oxidase 2
|
|
DUOXA2
|
dual oxidase maturation factor 2
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
ECE1
|
endothelin converting enzyme 1
|
|
EDA
|
ectodysplasin A
|
|
EDA2R
|
ectodysplasin A2 receptor
|
|
EDN3
|
endothelin 3
|
|
EDNRB
|
endothelin receptor type B
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
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
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
ESR1
|
estrogen receptor 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
F10
|
coagulation factor X
|
|
F2
|
coagulation factor II (thrombin)
|
|
F5
|
coagulation factor V (proaccelerin, labile factor)
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM111B
|
family with sequence similarity 111, member B
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FANCA
|
Fanconi anemia, complementation group A
|
|
FANCB
|
Fanconi anemia, complementation group B
|
|
FANCC
|
Fanconi anemia, complementation group C
|
|
FANCD2
|
Fanconi anemia, complementation group D2
|
|
FANCE
|
Fanconi anemia, complementation group E
|
|
FANCF
|
Fanconi anemia, complementation group F
|
|
FANCG
|
Fanconi anemia, complementation group G
|
|
FANCI
|
Fanconi anemia, complementation group I
|
|
FANCL
|
Fanconi anemia, complementation group L
|
|
FANCM
|
Fanconi anemia, complementation group M
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGG
|
fibrinogen gamma chain
|
|
FLCN
|
folliculin
|
|
FLII
|
flightless I homolog (Drosophila)
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FMR1
|
fragile X mental retardation 1
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
FOXC1
|
forkhead box C1
|
|
FOXC2
|
forkhead box C2
|
|
FOXE1
|
forkhead box E1
|
|
FOXI1
|
forkhead box I1
|
|
FOXL2
|
forkhead box L2
|
|
FOXP1
|
forkhead box P1
|
|
FOXP3
|
forkhead box P3
|
|
FSCN2
|
fascin actin-bundling protein 2, retinal
|
|
FSHB
|
follicle stimulating hormone, beta polypeptide
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
FUZ
|
fuzzy planar cell polarity protein
|
|
FXN
|
frataxin
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GATA3
|
GATA binding protein 3
|
|
GATA4
|
GATA binding protein 4
|
|
GATA6
|
GATA binding protein 6
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GDNF
|
glial cell derived neurotrophic factor
|
|
GFI1B
|
growth factor independent 1B transcription repressor
|
|
GH1
|
growth hormone 1
|
|
GHR
|
growth hormone receptor
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GIP
|
gastric inhibitory polypeptide
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB3
|
gap junction protein, beta 3, 31kDa
|
|
GJB4
|
gap junction protein, beta 4, 30.3kDa
|
|
GK
|
glycerol kinase
|
|
GLA
|
galactosidase, alpha
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLI3
|
GLI family zinc finger 3
|
|
GLIS3
|
GLIS family zinc finger 3
|
|
GLUD1
|
glutamate dehydrogenase 1
|
|
GMPPA
|
GDP-mannose pyrophosphorylase A
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAS
|
GNAS complex locus
|
|
GNAS-AS1
|
GNAS antisense RNA 1
|
|
GNRH1
|
gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
|
|
GNRHR
|
gonadotropin-releasing hormone receptor
|
|
GOLGA5
|
golgin A5
|
|
GP1BA
|
glycoprotein Ib (platelet), alpha polypeptide
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GP6
|
glycoprotein VI (platelet)
|
|
GP9
|
glycoprotein IX (platelet)
|
|
GPC3
|
glypican 3
|
|
GTF2H5
|
general transcription factor IIH, polypeptide 5
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
GUCA1B
|
guanylate cyclase activator 1B (retina)
|
|
GYS2
|
glycogen synthase 2 (liver)
|
|
H19
|
H19, imprinted maternally expressed transcript (non-protein coding)
|
|
H6PD
|
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
|
|
HADH
|
hydroxyacyl-CoA dehydrogenase
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HARS2
|
histidyl-tRNA synthetase 2, mitochondrial
|
|
HBB
|
hemoglobin, beta
|
|
HDAC8
|
histone deacetylase 8
|
|
HESX1
|
HESX homeobox 1
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HFM1
|
HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-DPB1
|
major histocompatibility complex, class II, DP beta 1
|
|
HLA-DQB1
|
major histocompatibility complex, class II, DQ beta 1
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMGA1
|
high mobility group AT-hook 1
|
|
HMGA2
|
high mobility group AT-hook 2
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HNF4A
|
hepatocyte nuclear factor 4, alpha
|
|
HPD
|
4-hydroxyphenylpyruvate dioxygenase
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD11B1
|
hydroxysteroid (11-beta) dehydrogenase 1
|
|
HSD11B2
|
hydroxysteroid (11-beta) dehydrogenase 2
|
|
HSD17B3
|
hydroxysteroid (17-beta) dehydrogenase 3
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSD3B2
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
ICK
|
intestinal cell (MAK-like) kinase
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDH2
|
isocitrate dehydrogenase 2 (NADP+), mitochondrial
|
|
IDH3B
|
isocitrate dehydrogenase 3 (NAD+) beta
|
|
IER3IP1
|
immediate early response 3 interacting protein 1
|
|
IFT27
|
intraflagellar transport 27
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IL2RG
|
interleukin 2 receptor, gamma
|
|
IL7R
|
interleukin 7 receptor
|
|
IMPDH1
|
IMP (inosine 5'-monophosphate) dehydrogenase 1
|
|
IMPG2
|
interphotoreceptor matrix proteoglycan 2
|
|
INPP5E
|
inositol polyphosphate-5-phosphatase, 72 kDa
|
|
INS
|
insulin
|
|
INSR
|
insulin receptor
|
|
IRX5
|
iroquois homeobox 5
|
|
ITGA2B
|
integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
|
|
ITGA8
|
integrin, alpha 8
|
|
ITGB3
|
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
|
|
ITS
|
Insulinoma tumor suppressor gene locus
|
|
IYD
|
iodotyrosine deiodinase
|
|
JAG1
|
jagged 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
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
|
|
KCNJ11
|
potassium channel, inwardly rectifying subfamily J, member 11
|
|
KCNJ5
|
potassium channel, inwardly rectifying subfamily J, member 5
|
|
KCNQ1OT1
|
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KIAA0196
|
KIAA0196
|
|
KIF1B
|
kinesin family member 1B
|
|
KIF7
|
kinesin family member 7
|
|
KISS1
|
KiSS-1 metastasis-suppressor
|
|
KISS1R
|
KISS1 receptor
|
|
KIZ
|
kizuna centrosomal protein
|
|
KLF11
|
Kruppel-like factor 11
|
|
KLHL7
|
kelch-like family member 7
|
|
KLLN
|
killin, p53-regulated DNA replication inhibitor
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LARS2
|
leucyl-tRNA synthetase 2, mitochondrial
|
|
LBR
|
lamin B receptor
|
|
LEMD3
|
LEM domain containing 3
|
|
LEP
|
leptin
|
|
LEPR
|
leptin receptor
|
|
LHB
|
luteinizing hormone beta polypeptide
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LHX1
|
LIM homeobox 1
|
|
LHX3
|
LIM homeobox 3
|
|
LHX4
|
LIM homeobox 4
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LIMK1
|
LIM domain kinase 1
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
LMNA
|
lamin A/C
|
|
LRAT
|
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
|
|
LRBA
|
LPS-responsive vesicle trafficking, beach and anchor containing
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAGEL2
|
melanoma antigen family L2
|
|
MAK
|
male germ cell-associated kinase
|
|
MALT1
|
MALT1 paracaspase
|
|
MAP3K1
|
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
|
|
MC2R
|
melanocortin 2 receptor (adrenocorticotropic hormone)
|
|
MCFD2
|
multiple coagulation factor deficiency 2
|
|
MCM4
|
minichromosome maintenance complex component 4
|
|
MDM2
|
MDM2 proto-oncogene, E3 ubiquitin protein ligase
|
|
MEN1
|
multiple endocrine neoplasia I
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MINPP1
|
multiple inositol-polyphosphate phosphatase 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKRN3
|
makorin ring finger protein 3
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MLH1
|
mutL homolog 1
|
|
MPI
|
mannose phosphate isomerase
|
|
MRAP
|
melanocortin 2 receptor accessory protein
|
|
MSH2
|
mutS homolog 2
|
|
MSH6
|
mutS homolog 6
|
|
MT-ATP8
|
ATP synthase F0 subunit 8
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTHFR
|
methylenetetrahydrofolate reductase (NAD(P)H)
|
|
MYH9
|
myosin, heavy chain 9, non-muscle
|
|
NBEAL2
|
neurobeachin-like 2
|
|
NCOA4
|
nuclear receptor coactivator 4
|
|
ND1
|
|
|
NDE1
|
nudE neurodevelopment protein 1
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NEK2
|
NIMA-related kinase 2
|
|
NEUROD1
|
neuronal differentiation 1
|
|
NF1
|
neurofibromin 1
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NFKB2
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NIN
|
ninein (GSK3B interacting protein)
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NKX2-5
|
NK2 homeobox 5
|
|
NLGN4X
|
neuroligin 4, X-linked
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NPHP1
|
nephronophthisis 1 (juvenile)
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR2E3
|
nuclear receptor subfamily 2, group E, member 3
|
|
NR3C1
|
nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NRL
|
neural retina leucine zipper
|
|
NRTN
|
neurturin
|
|
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
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTX2
|
orthodenticle homeobox 2
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PAX2
|
paired box 2
|
|
PAX4
|
paired box 4
|
|
PAX8
|
paired box 8
|
|
PCM1
|
pericentriolar material 1
|
|
PCNT
|
pericentrin
|
|
PCSK1
|
proprotein convertase subtilisin/kexin type 1
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE4D
|
phosphodiesterase 4D, cAMP-specific
|
|
PDE6A
|
phosphodiesterase 6A, cGMP-specific, rod, alpha
|
|
PDE6B
|
phosphodiesterase 6B, cGMP-specific, rod, beta
|
|
PDE6D
|
phosphodiesterase 6D, cGMP-specific, rod, delta
|
|
PDE6G
|
phosphodiesterase 6G, cGMP-specific, rod, gamma
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PDX1
|
pancreatic and duodenal homeobox 1
|
|
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
|
|
PGM1
|
phosphoglucomutase 1
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHF6
|
PHD finger protein 6
|
|
PHKG2
|
phosphorylase kinase, gamma 2 (testis)
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
PITX2
|
paired-like homeodomain 2
|
|
PLAU
|
plasminogen activator, urokinase
|
|
PLCD1
|
phospholipase C, delta 1
|
|
PLCG2
|
phospholipase C, gamma 2 (phosphatidylinositol-specific)
|
|
PLIN1
|
perilipin 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PMS2
|
PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POC1A
|
POC1 centriolar protein A
|
|
POF1B
|
premature ovarian failure, 1B
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
POLR3A
|
polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
|
|
POLR3B
|
polymerase (RNA) III (DNA directed) polypeptide B
|
|
POMC
|
proopiomelanocortin
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
POU1F1
|
POU class 1 homeobox 1
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRCD
|
progressive rod-cone degeneration
|
|
PRDM16
|
PR domain containing 16
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCA
|
protein kinase C, alpha
|
|
PRLR
|
prolactin receptor
|
|
PROK2
|
prokineticin 2
|
|
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)
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PRTN3
|
proteinase 3
|
|
PSMC3IP
|
PSMC3 interacting protein
|
|
PSTPIP1
|
proline-serine-threonine phosphatase interacting protein 1
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTF1A
|
pancreas specific transcription factor, 1a
|
|
PTH
|
parathyroid hormone
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
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
|
|
RAB23
|
RAB23, member RAS oncogene family
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RAD21
|
RAD21 homolog (S. pombe)
|
|
RAD51C
|
RAD51 paralog C
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RAI1
|
retinoic acid induced 1
|
|
RBM28
|
RNA binding motif protein 28
|
|
RBP3
|
retinol binding protein 3, interstitial
|
|
RDH12
|
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
|
RECQL4
|
RecQ protein-like 4
|
|
REN
|
renin
|
|
RENBP
|
renin binding protein
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RGR
|
retinal G protein coupled receptor
|
|
RHO
|
rhodopsin
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RLBP1
|
retinaldehyde binding protein 1
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
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
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCNN1A
|
sodium channel, non voltage gated 1 alpha subunit
|
|
SCNN1B
|
sodium channel, non voltage gated 1 beta subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SCP2
|
sterol carrier protein 2
|
|
SDHAF2
|
succinate dehydrogenase complex assembly factor 2
|
|
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
|
|
SECISBP2
|
SECIS binding protein 2
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
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
|
|
SERPINE1
|
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SHH
|
sonic hedgehog
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SIX3
|
SIX homeobox 3
|
|
SIX6
|
SIX homeobox 6
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC1A1
|
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
|
|
SLC26A3
|
solute carrier family 26 (anion exchanger), member 3
|
|
SLC26A4
|
solute carrier family 26 (anion exchanger), member 4
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC39A4
|
solute carrier family 39 (zinc transporter), member 4
|
|
SLC52A2
|
solute carrier family 52 (riboflavin transporter), member 2
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SLC5A5
|
solute carrier family 5 (sodium/iodide cotransporter), member 5
|
|
SLC7A14
|
solute carrier family 7, member 14
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMC1A
|
structural maintenance of chromosomes 1A
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNRNP200
|
small nuclear ribonucleoprotein 200kDa (U5)
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SOST
|
sclerostin
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SOX2
|
SRY (sex determining region Y)-box 2
|
|
SOX3
|
SRY (sex determining region Y)-box 3
|
|
SPATA7
|
spermatogenesis associated 7
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRY
|
sex determining region Y
|
|
SSTR5
|
somatostatin receptor 5
|
|
STAG3
|
stromal antigen 3
|
|
STAR
|
steroidogenic acute regulatory protein
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
STAT5B
|
signal transducer and activator of transcription 5B
|
|
STEAP3
|
STEAP family member 3, metalloreductase
|
|
STK11
|
serine/threonine kinase 11
|
|
STRADA
|
STE20-related kinase adaptor alpha
|
|
STUB1
|
STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
|
|
STX16
|
syntaxin 16
|
|
TAC3
|
tachykinin 3
|
|
TACR3
|
tachykinin receptor 3
|
|
TBC1D7
|
TBC1 domain family, member 7
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX19
|
T-box 19
|
|
TBX3
|
T-box 3
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TCTN1
|
tectonic family member 1
|
|
TCTN2
|
tectonic family member 2
|
|
TCTN3
|
tectonic family member 3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TF
|
transferrin
|
|
TFR2
|
transferrin receptor 2
|
|
TG
|
thyroglobulin
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
THRA
|
thyroid hormone receptor, alpha
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TMEM138
|
transmembrane protein 138
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM237
|
transmembrane protein 237
|
|
TMEM67
|
transmembrane protein 67
|
|
TNXB
|
tenascin XB
|
|
TOPORS
|
topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
|
|
TP53
|
tumor protein p53
|
|
TP63
|
tumor protein p63
|
|
TPO
|
thyroid peroxidase
|
|
TRH
|
thyrotropin-releasing hormone
|
|
TRHR
|
thyrotropin-releasing hormone receptor
|
|
TRIM24
|
tripartite motif containing 24
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM33
|
tripartite motif containing 33
|
|
TRMT10A
|
tRNA methyltransferase 10 homolog A (S. cerevisiae)
|
|
TRNE
|
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSHB
|
thyroid stimulating hormone, beta
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
TTPA
|
tocopherol (alpha) transfer protein
|
|
TUB
|
tubby bipartite transcription factor
|
|
TULP1
|
tubby like protein 1
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VAMP7
|
vesicle-associated membrane protein 7
|
|
VANGL1
|
VANGL planar cell polarity protein 1
|
|
VANGL2
|
VANGL planar cell polarity protein 2
|
|
VAX1
|
ventral anterior homeobox 1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VIPAS39
|
VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
VPS33B
|
vacuolar protein sorting 33 homolog B (yeast)
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR11
|
WD repeat domain 11
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
WIPF1
|
WAS/WASL interacting protein family, member 1
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT4
|
wingless-type MMTV integration site family, member 4
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
WT1
|
Wilms tumor 1
|
|
WWOX
|
WW domain containing oxidoreductase
|
|
ZFP57
|
ZFP57 zinc finger protein
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF423
|
zinc finger protein 423
|
|
ZNF513
|
zinc finger protein 513
|
