| Symbol |
Name |
|
AAAS
|
achalasia, adrenocortical insufficiency, alacrimia
|
|
AAGAB
|
alpha- and gamma-adaptin binding protein
|
|
ABCA1
|
ATP-binding cassette, sub-family A (ABC1), member 1
|
|
ABCA4
|
ATP-binding cassette, sub-family A (ABC1), member 4
|
|
ABCB11
|
ATP-binding cassette, sub-family B (MDR/TAP), member 11
|
|
ABCB4
|
ATP-binding cassette, sub-family B (MDR/TAP), member 4
|
|
ABCC2
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 2
|
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCC8
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 8
|
|
ABCG2
|
ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACTN3
|
actinin, alpha 3 (gene/pseudogene)
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIRE
|
autoimmune regulator
|
|
ALMS1
|
Alstrom syndrome protein 1
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANGPTL3
|
angiopoietin-like 3
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
APOA1
|
apolipoprotein A-I
|
|
APOA5
|
apolipoprotein A-V
|
|
APOB
|
apolipoprotein B
|
|
APTX
|
aprataxin
|
|
AQP2
|
aquaporin 2 (collecting duct)
|
|
AR
|
androgen receptor
|
|
ARSA
|
arylsulfatase A
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATL1
|
atlastin GTPase 1
|
|
ATM
|
ATM serine/threonine kinase
|
|
ATP1A2
|
ATPase, Na+/K+ transporting, alpha 2 polypeptide
|
|
ATP2A2
|
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
|
|
ATP2C1
|
ATPase, Ca++ transporting, type 2C, member 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
ATP8B1
|
ATPase, aminophospholipid transporter, class I, type 8B, member 1
|
|
ATR
|
ATR serine/threonine kinase
|
|
AURKC
|
aurora kinase C
|
|
AVPR2
|
arginine vasopressin receptor 2
|
|
BAP1
|
BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
|
|
BICC1
|
BicC family RNA binding protein 1
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP4
|
bone morphogenetic protein 4
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BMPR2
|
bone morphogenetic protein receptor, type II (serine/threonine kinase)
|
|
BRCA1
|
breast cancer 1, early onset
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRWD3
|
bromodomain and WD repeat domain containing 3
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C2ORF71
|
chromosome 2 open reading frame 71
|
|
CABP4
|
calcium binding protein 4
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1F
|
calcium channel, voltage-dependent, L type, alpha 1F subunit
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CD36
|
CD36 molecule (thrombospondin receptor)
|
|
CDC73
|
cell division cycle 73
|
|
CDH1
|
cadherin 1, type 1, E-cadherin (epithelial)
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CDK5RAP2
|
CDK5 regulatory subunit associated protein 2
|
|
CDKN2A
|
cyclin-dependent kinase inhibitor 2A
|
|
CDSN
|
corneodesmosin
|
|
CEP250
|
centrosomal protein 250kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CFTR
|
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHM
|
choroideremia (Rab escort protein 1)
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHST6
|
carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLDN16
|
claudin 16
|
|
CNGA3
|
cyclic nucleotide gated channel alpha 3
|
|
CNGB3
|
cyclic nucleotide gated channel beta 3
|
|
COL10A1
|
collagen, type X, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL4A3
|
collagen, type IV, alpha 3 (Goodpasture antigen)
|
|
COL4A5
|
collagen, type IV, alpha 5
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COX1
|
|
|
COX7B
|
cytochrome c oxidase subunit VIIb
|
|
CRBN
|
cereblon
|
|
CRYAA
|
crystallin, alpha A
|
|
CRYBB1
|
crystallin, beta B1
|
|
CRYGC
|
crystallin, gamma C
|
|
CRYGD
|
crystallin, gamma D
|
|
CSF3R
|
colony stimulating factor 3 receptor (granulocyte)
|
|
CSTA
|
cystatin A (stefin A)
|
|
CTH
|
cystathionine gamma-lyase
|
|
CTSC
|
cathepsin C
|
|
CTSK
|
cathepsin K
|
|
CYBB
|
cytochrome b-245, beta polypeptide
|
|
CYLD
|
cylindromatosis (turban tumor syndrome)
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2E1
|
cytochrome P450, family 2, subfamily E, polypeptide 1
|
|
CYP4V2
|
cytochrome P450, family 4, subfamily V, polypeptide 2
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DDB2
|
damage-specific DNA binding protein 2, 48kDa
|
|
DFNB59
|
deafness, autosomal recessive 59
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
|
DMD
|
dystrophin
|
|
DNAH11
|
dynein, axonemal, heavy chain 11
|
|
DNAH8
|
dynein, axonemal, heavy chain 8
|
|
DPYS
|
dihydropyrimidinase
|
|
DSC3
|
desmocollin 3
|
|
DSG2
|
desmoglein 2
|
|
DSP
|
desmoplakin
|
|
DST
|
dystonin
|
|
DUOX2
|
dual oxidase 2
|
|
DYSF
|
dysferlin
|
|
ECM1
|
extracellular matrix protein 1
|
|
EDA
|
ectodysplasin A
|
|
EDAR
|
ectodysplasin A receptor
|
|
EDNRB
|
endothelin receptor type B
|
|
EFNB1
|
ephrin-B1
|
|
EGFR
|
epidermal growth factor receptor
|
|
EGLN1
|
egl-9 family hypoxia-inducible factor 1
|
|
ELOVL4
|
ELOVL fatty acid elongase 4
|
|
ENAM
|
enamelin
|
|
ENG
|
endoglin
|
|
ENPEP
|
glutamyl aminopeptidase (aminopeptidase A)
|
|
EPB41
|
erythrocyte membrane protein band 4.1
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ETF1
|
eukaryotic translation termination factor 1
|
|
EXOSC3
|
exosome component 3
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
F13A1
|
coagulation factor XIII, A1 polypeptide
|
|
F7
|
coagulation factor VII (serum prothrombin conversion accelerator)
|
|
F8
|
coagulation factor VIII, procoagulant component
|
|
F9
|
coagulation factor IX
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FAM161A
|
family with sequence similarity 161, member A
|
|
FAM20A
|
family with sequence similarity 20, member A
|
|
FAS
|
Fas cell surface death receptor
|
|
FBN1
|
fibrillin 1
|
|
FGA
|
fibrinogen alpha chain
|
|
FGB
|
fibrinogen beta chain
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGG
|
fibrinogen gamma chain
|
|
FH
|
fumarate hydratase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLG
|
filaggrin
|
|
FMO3
|
flavin containing monooxygenase 3
|
|
FOXF1
|
forkhead box F1
|
|
FOXL2
|
forkhead box L2
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FRMD7
|
FERM domain containing 7
|
|
FUS
|
FUS RNA binding protein
|
|
FUT2
|
fucosyltransferase 2 (secretor status included)
|
|
GABRA1
|
gamma-aminobutyric acid (GABA) A receptor, alpha 1
|
|
GABRG2
|
gamma-aminobutyric acid (GABA) A receptor, gamma 2
|
|
GABRR1
|
gamma-aminobutyric acid (GABA) A receptor, rho 1
|
|
GALC
|
galactosylceramidase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GAN
|
gigaxonin
|
|
GATA3
|
GATA binding protein 3
|
|
GATA6
|
GATA binding protein 6
|
|
GBE1
|
glucan (1,4-alpha-), branching enzyme 1
|
|
GCH1
|
GTP cyclohydrolase 1
|
|
GCK
|
glucokinase (hexokinase 4)
|
|
GCNT2
|
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GH1
|
growth hormone 1
|
|
GHR
|
growth hormone receptor
|
|
GHRHR
|
growth hormone releasing hormone receptor
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLA
|
galactosidase, alpha
|
|
GLDC
|
glycine dehydrogenase (decarboxylating)
|
|
GLI2
|
GLI family zinc finger 2
|
|
GLTSCR2
|
glioma tumor suppressor candidate region gene 2
|
|
GNAT2
|
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GP9
|
glycoprotein IX (platelet)
|
|
GRK1
|
G protein-coupled receptor kinase 1
|
|
HBA2
|
hemoglobin, alpha 2
|
|
HBB
|
hemoglobin, beta
|
|
HEXA
|
hexosaminidase A (alpha polypeptide)
|
|
HEXB
|
hexosaminidase B (beta polypeptide)
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HLA-A
|
major histocompatibility complex, class I, A
|
|
HMBS
|
hydroxymethylbilane synthase
|
|
HNF1A
|
HNF1 homeobox A
|
|
HNF1B
|
HNF1 homeobox B
|
|
HOXA2
|
homeobox A2
|
|
HOXC13
|
homeobox C13
|
|
HOXD13
|
homeobox D13
|
|
HPRT1
|
hypoxanthine phosphoribosyltransferase 1
|
|
HPS6
|
Hermansky-Pudlak syndrome 6
|
|
HPSE2
|
heparanase 2 (inactive)
|
|
HR
|
hair growth associated
|
|
HSD17B3
|
hydroxysteroid (17-beta) dehydrogenase 3
|
|
HSF4
|
heat shock transcription factor 4
|
|
IDH1
|
isocitrate dehydrogenase 1 (NADP+), soluble
|
|
IDS
|
iduronate 2-sulfatase
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFNE
|
interferon, epsilon
|
|
IGF1R
|
insulin-like growth factor 1 receptor
|
|
IKBKB
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
|
|
IKBKG
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
|
|
IL12RB1
|
interleukin 12 receptor, beta 1
|
|
INSR
|
insulin receptor
|
|
IRF6
|
interferon regulatory factor 6
|
|
ITGB4
|
integrin, beta 4
|
|
ITK
|
IL2-inducible T-cell kinase
|
|
JAG1
|
jagged 1
|
|
KCNH2
|
potassium channel, voltage gated eag related subfamily H, member 2
|
|
KCNJ10
|
potassium channel, inwardly rectifying subfamily J, member 10
|
|
KCNJ13
|
potassium channel, inwardly rectifying subfamily J, member 13
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KCNMA1
|
potassium channel, calcium activated large conductance subfamily M alpha, member 1
|
|
KCNQ1
|
potassium channel, voltage gated KQT-like subfamily Q, member 1
|
|
KCNV2
|
potassium channel, voltage gated modifier subfamily V, member 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
KIF1C
|
kinesin family member 1C
|
|
KRT10
|
keratin 10, type I
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMB3
|
laminin, beta 3
|
|
LDLR
|
low density lipoprotein receptor
|
|
LEMD3
|
LEM domain containing 3
|
|
LHCGR
|
luteinizing hormone/choriogonadotropin receptor
|
|
LIPE
|
lipase, hormone-sensitive
|
|
LMNA
|
lamin A/C
|
|
LRP1
|
low density lipoprotein receptor-related protein 1
|
|
LRTOMT
|
leucine rich transmembrane and O-methyltransferase domain containing
|
|
LTBP3
|
latent transforming growth factor beta binding protein 3
|
|
LYST
|
lysosomal trafficking regulator
|
|
MAK
|
male germ cell-associated kinase
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MAN1B1
|
mannosidase, alpha, class 1B, member 1
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MASP2
|
mannan-binding lectin serine peptidase 2
|
|
MC4R
|
melanocortin 4 receptor
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MERTK
|
MER proto-oncogene, tyrosine kinase
|
|
MFRP
|
membrane frizzled-related protein
|
|
MIP
|
major intrinsic protein of lens fiber
|
|
MLH1
|
mutL homolog 1
|
|
MMAB
|
methylmalonic aciduria (cobalamin deficiency) cblB type
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
MPZ
|
myelin protein zero
|
|
MSH2
|
mutS homolog 2
|
|
MSR1
|
macrophage scavenger receptor 1
|
|
MSX1
|
msh homeobox 1
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MTM1
|
myotubularin 1
|
|
MTTP
|
microsomal triglyceride transfer protein
|
|
MYH2
|
myosin, heavy chain 2, skeletal muscle, adult
|
|
MYO15A
|
myosin XVA
|
|
MYO5B
|
myosin VB
|
|
MYO6
|
myosin VI
|
|
MYO7A
|
myosin VIIA
|
|
MYPN
|
myopalladin
|
|
NALCN
|
sodium leak channel, non selective
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NDUFS4
|
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NF1
|
neurofibromin 1
|
|
NF2
|
neurofibromin 2 (merlin)
|
|
NIPAL4
|
NIPA-like domain containing 4
|
|
NKX2-1
|
NK2 homeobox 1
|
|
NLRP12
|
NLR family, pyrin domain containing 12
|
|
NOG
|
noggin
|
|
NOTCH2
|
notch 2
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NR0B1
|
nuclear receptor subfamily 0, group B, member 1
|
|
NR3C2
|
nuclear receptor subfamily 3, group C, member 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
NYX
|
nyctalopin
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
OTOF
|
otoferlin
|
|
PAH
|
phenylalanine hydroxylase
|
|
PAX6
|
paired box 6
|
|
PAX9
|
paired box 9
|
|
PCSK9
|
proprotein convertase subtilisin/kexin type 9
|
|
PDE6C
|
phosphodiesterase 6C, cGMP-specific, cone, alpha prime
|
|
PDHA1
|
pyruvate dehydrogenase (lipoamide) alpha 1
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
PEX11B
|
peroxisomal biogenesis factor 11 beta
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHOX2A
|
paired-like homeobox 2a
|
|
PIGA
|
phosphatidylinositol glycan anchor biosynthesis, class A
|
|
PINK1
|
PTEN induced putative kinase 1
|
|
PKD1
|
polycystic kidney disease 1 (autosomal dominant)
|
|
PKP1
|
plakophilin 1
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLP1
|
proteolipid protein 1
|
|
PMM2
|
phosphomannomutase 2
|
|
PNPLA1
|
patatin-like phospholipase domain containing 1
|
|
PNPO
|
pyridoxamine 5'-phosphate oxidase
|
|
POLH
|
polymerase (DNA directed), eta
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRKCSH
|
protein kinase C substrate 80K-H
|
|
PROM1
|
prominin 1
|
|
PROS1
|
protein S (alpha)
|
|
PRRT2
|
proline-rich transmembrane protein 2
|
|
PRX
|
periaxin
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAD52
|
RAD52 homolog (S. cerevisiae)
|
|
RANGRF
|
RAN guanine nucleotide release factor
|
|
RB1
|
retinoblastoma 1
|
|
RBFOX1
|
RNA binding protein, fox-1 homolog (C. elegans) 1
|
|
RBFOX3
|
RNA binding protein, fox-1 homolog (C. elegans) 3
|
|
RDH5
|
retinol dehydrogenase 5 (11-cis/9-cis)
|
|
RGS9
|
regulator of G-protein signaling 9
|
|
RGS9BP
|
regulator of G protein signaling 9 binding protein
|
|
RHO
|
rhodopsin
|
|
RNPC3
|
RNA-binding region (RNP1, RRM) containing 3
|
|
ROGDI
|
rogdi homolog (Drosophila)
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
RP1
|
retinitis pigmentosa 1 (autosomal dominant)
|
|
RPGR
|
retinitis pigmentosa GTPase regulator
|
|
RS1
|
retinoschisin 1
|
|
RSPO4
|
R-spondin 4
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RUNX1
|
runt-related transcription factor 1
|
|
SACK1H
|
scaffolding CK1 anchoring protein H
|
|
SACS
|
sacsin molecular chaperone
|
|
SAG
|
S-antigen; retina and pineal gland (arrestin)
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SBF2
|
SET binding factor 2
|
|
SCN1A
|
sodium channel, voltage gated, type I alpha subunit
|
|
SCN2A
|
sodium channel, voltage gated, type II alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SCNN1G
|
sodium channel, non voltage gated 1 gamma subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SDHB
|
succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
|
|
SEC23B
|
Sec23 homolog B (S. cerevisiae)
|
|
SEC63
|
SEC63 homolog (S. cerevisiae)
|
|
SEPN1
|
selenoprotein N, 1
|
|
SERPINA10
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10
|
|
SERPING1
|
serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
|
|
SETBP1
|
SET binding protein 1
|
|
SETX
|
senataxin
|
|
SGCE
|
sarcoglycan, epsilon
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC19A2
|
solute carrier family 19 (thiamine transporter), member 2
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A13
|
solute carrier family 25 (aspartate/glutamate carrier), member 13
|
|
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
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC4A4
|
solute carrier family 4 (sodium bicarbonate cotransporter), member 4
|
|
SLC6A5
|
solute carrier family 6 (neurotransmitter transporter), member 5
|
|
SLITRK6
|
SLIT and NTRK-like family, member 6
|
|
SLURP1
|
secreted LY6/PLAUR domain containing 1
|
|
SMAD3
|
SMAD family member 3
|
|
SMAD4
|
SMAD family member 4
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SOST
|
sclerostin
|
|
SPAST
|
spastin
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
SPTBN2
|
spectrin, beta, non-erythrocytic 2
|
|
ST3GAL5
|
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
|
|
STIM1
|
stromal interaction molecule 1
|
|
SYCE1
|
synaptonemal complex central element protein 1
|
|
SYN1
|
synapsin I
|
|
SYNGR1
|
synaptogyrin 1
|
|
TACSTD2
|
tumor-associated calcium signal transducer 2
|
|
TAZ
|
tafazzin
|
|
TBC1D4
|
TBC1 domain family, member 4
|
|
TBX15
|
T-box 15
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TERF2IP
|
telomeric repeat binding factor 2, interacting protein
|
|
TET2
|
tet methylcytosine dioxygenase 2
|
|
TG
|
thyroglobulin
|
|
TGFBI
|
transforming growth factor, beta-induced, 68kDa
|
|
TGIF1
|
TGFB-induced factor homeobox 1
|
|
TGM1
|
transglutaminase 1
|
|
TH
|
tyrosine hydroxylase
|
|
TICAM1
|
toll-like receptor adaptor molecule 1
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TLR5
|
toll-like receptor 5
|
|
TMC6
|
transmembrane channel-like 6
|
|
TMC8
|
transmembrane channel-like 8
|
|
TP53
|
tumor protein p53
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRPM6
|
transient receptor potential cation channel, subfamily M, member 6
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSC2
|
tuberous sclerosis 2
|
|
TSHR
|
thyroid stimulating hormone receptor
|
|
TUSC3
|
tumor suppressor candidate 3
|
|
TYR
|
tyrosinase
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
UGT1A1
|
UDP glucuronosyltransferase 1 family, polypeptide A1
|
|
UOX
|
urate oxidase, pseudogene
|
|
UPF1
|
UPF1 regulator of nonsense transcripts homolog (yeast)
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VEGFA
|
vascular endothelial growth factor A
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
|
VLDLR
|
very low density lipoprotein receptor
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
VWF
|
von Willebrand factor
|
|
WAS
|
Wiskott-Aldrich syndrome
|
|
WNT10A
|
wingless-type MMTV integration site family, member 10A
|
|
WNT10B
|
wingless-type MMTV integration site family, member 10B
|
|
XDH
|
xanthine dehydrogenase
|
|
XK
|
X-linked Kx blood group
|
|
ZEB1
|
zinc finger E-box binding homeobox 1
|
|
ZEB2
|
zinc finger E-box binding homeobox 2
|
