| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
AKR1D1
|
aldo-keto reductase family 1, member D1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
ANO5
|
anoctamin 5
|
|
ANOS1
|
anosmin 1
|
|
ANTXR2
|
anthrax toxin receptor 2
|
|
AR
|
androgen receptor
|
|
ARMC5
|
armadillo repeat containing 5
|
|
ASAH1
|
N-acylsphingosine amidohydrolase (acid ceramidase) 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
AVP
|
arginine vasopressin
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BAAT
|
bile acid CoA:amino acid N-acyltransferase
|
|
BANF1
|
barrier to autointegration factor 1
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BMP1
|
bone morphogenetic protein 1
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BRCA2
|
breast cancer 2, early onset
|
|
BRIP1
|
BRCA1 interacting protein C-terminal helicase 1
|
|
CA2
|
carbonic anhydrase II
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASR
|
calcium-sensing receptor
|
|
CBS
|
cystathionine-beta-synthase
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLCN5
|
chloride channel, voltage-sensitive 5
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COG1
|
component of oligomeric golgi complex 1
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COX4I2
|
cytochrome c oxidase subunit IV isoform 2 (lung)
|
|
CRTAP
|
cartilage associated protein
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTDP1
|
CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
CYP19A1
|
cytochrome P450, family 19, subfamily A, polypeptide 1
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
|
CYP2R1
|
cytochrome P450, family 2, subfamily R, polypeptide 1
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DKK1
|
dickkopf WNT signaling pathway inhibitor 1
|
|
DMP1
|
dentin matrix acidic phosphoprotein 1
|
|
DUSP6
|
dual specificity phosphatase 6
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
EHHADH
|
enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELN
|
elastin
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
EPHX1
|
epoxide hydrolase 1, microsomal (xenobiotic)
|
|
ERCC4
|
excision repair cross-complementation group 4
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESR1
|
estrogen receptor 1
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM134B
|
family with sequence similarity 134, 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
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FEZF1
|
FEZ family zinc finger 1
|
|
FGF17
|
fibroblast growth factor 17
|
|
FGF23
|
fibroblast growth factor 23
|
|
FGF8
|
fibroblast growth factor 8 (androgen-induced)
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FKBP10
|
FK506 binding protein 10, 65 kDa
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FLRT3
|
fibronectin leucine rich transmembrane protein 3
|
|
FOXG1
|
forkhead box G1
|
|
FSHR
|
follicle stimulating hormone receptor
|
|
G6PC
|
glucose-6-phosphatase, catalytic subunit
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GALT
|
galactose-1-phosphate uridylyltransferase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GBA
|
glucosidase, beta, acid
|
|
GK
|
glycerol kinase
|
|
GLA
|
galactosidase, alpha
|
|
GLB1
|
galactosidase, beta 1
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
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
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HAMP
|
hepcidin antimicrobial peptide
|
|
HBB
|
hemoglobin, beta
|
|
HESX1
|
HESX homeobox 1
|
|
HFE
|
hemochromatosis
|
|
HFE2
|
hemochromatosis type 2 (juvenile)
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HPGD
|
hydroxyprostaglandin dehydrogenase 15-(NAD)
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HS6ST1
|
heparan sulfate 6-O-sulfotransferase 1
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSD3B7
|
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IFITM5
|
interferon induced transmembrane protein 5
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT43
|
intraflagellar transport 43
|
|
IGF1
|
insulin-like growth factor 1 (somatomedin C)
|
|
IL17RD
|
interleukin 17 receptor D
|
|
IRX5
|
iroquois homeobox 5
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KIF1A
|
kinesin family member 1A
|
|
KISS1R
|
KISS1 receptor
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LBR
|
lamin B receptor
|
|
LETM1
|
leucine zipper-EF-hand containing transmembrane protein 1
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LRP5
|
low density lipoprotein receptor-related protein 5
|
|
MAFB
|
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
|
|
MALT1
|
MALT1 paracaspase
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP13
|
matrix metallopeptidase 13
|
|
MMP14
|
matrix metallopeptidase 14 (membrane-inserted)
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NELFA
|
negative elongation factor complex member A
|
|
NFIX
|
nuclear factor I/X (CCAAT-binding transcription factor)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH2
|
notch 2
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NR5A1
|
nuclear receptor subfamily 5, group A, member 1
|
|
NSMF
|
NMDA receptor synaptonuclear signaling and neuronal migration factor
|
|
NTNG1
|
netrin G1
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
P3H1
|
prolyl 3-hydroxylase 1
|
|
PALB2
|
partner and localizer of BRCA2
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PEPD
|
peptidase D
|
|
PEX12
|
peroxisomal biogenesis factor 12
|
|
PHEX
|
phosphate regulating endopeptidase homolog, X-linked
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PIGT
|
phosphatidylinositol glycan anchor biosynthesis, class T
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PLS3
|
plastin 3
|
|
PMM2
|
phosphomannomutase 2
|
|
POF1B
|
premature ovarian failure, 1B
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
PRDM5
|
PR domain containing 5
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PROK2
|
prokineticin 2
|
|
PROKR2
|
prokineticin receptor 2
|
|
PSAP
|
prosaposin
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PSMC3IP
|
PSMC3 interacting protein
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAD51C
|
RAD51 paralog C
|
|
RECQL4
|
RecQ protein-like 4
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RIN2
|
Ras and Rab interactor 2
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SC5D
|
sterol-C5-desaturase
|
|
SCARB2
|
scavenger receptor class B, member 2
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SEMA3A
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SKI
|
SKI proto-oncogene
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC2A2
|
solute carrier family 2 (facilitated glucose transporter), member 2
|
|
SLC34A1
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
|
|
SLC34A3
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
|
|
SLC37A4
|
solute carrier family 37 (glucose-6-phosphate transporter), member 4
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLC4A1
|
solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
|
|
SLC7A7
|
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
|
|
SLC9A3R1
|
solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
|
|
SLCO2A1
|
solute carrier organic anion transporter family, member 2A1
|
|
SLX4
|
SLX4 structure-specific endonuclease subunit
|
|
SMAD3
|
SMAD family member 3
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMPD1
|
sphingomyelin phosphodiesterase 1, acid lysosomal
|
|
SMS
|
spermine synthase
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SNX10
|
sorting nexin 10
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SP7
|
Sp7 transcription factor
|
|
SPRY4
|
sprouty homolog 4 (Drosophila)
|
|
STAT3
|
signal transducer and activator of transcription 3 (acute-phase response factor)
|
|
TACR3
|
tachykinin receptor 3
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TJP2
|
tight junction protein 2
|
|
TMEM165
|
transmembrane protein 165
|
|
TNFRSF11B
|
tumor necrosis factor receptor superfamily, member 11b
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TRMT10A
|
tRNA methyltransferase 10 homolog A (S. cerevisiae)
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TYR
|
tyrosinase
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
UROS
|
uroporphyrinogen III synthase
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
WDR11
|
WD repeat domain 11
|
|
WDR19
|
WD repeat domain 19
|
|
WDR35
|
WD repeat domain 35
|
|
WHSC1
|
Wolf-Hirschhorn syndrome candidate 1
|
|
WISP3
|
WNT1 inducible signaling pathway protein 3
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
WNT1
|
wingless-type MMTV integration site family, member 1
|
|
WNT3A
|
wingless-type MMTV integration site family, member 3A
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
|
ZNF469
|
zinc finger protein 469
|
