| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ABCD3
|
ATP-binding cassette, sub-family D (ALD), member 3
|
|
ACVR1
|
activin A receptor, type I
|
|
ADAR
|
adenosine deaminase, RNA-specific
|
|
AGPS
|
alkylglycerone phosphate synthase
|
|
AIRE
|
autoimmune regulator
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ANKH
|
ANKH inorganic pyrophosphate transport regulator
|
|
AP1S2
|
adaptor-related protein complex 1, sigma 2 subunit
|
|
AP2S1
|
adaptor-related protein complex 2, sigma 1 subunit
|
|
APP
|
amyloid beta (A4) precursor protein
|
|
ARSE
|
arylsulfatase E (chondrodysplasia punctata 1)
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
ATP7B
|
ATPase, Cu++ transporting, beta polypeptide
|
|
CA2
|
carbonic anhydrase II
|
|
CASR
|
calcium-sensing receptor
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTGF
|
connective tissue growth factor
|
|
CTSC
|
cathepsin C
|
|
CYP27A1
|
cytochrome P450, family 27, subfamily A, polypeptide 1
|
|
CYP2U1
|
cytochrome P450, family 2, subfamily U, polypeptide 1
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ECM1
|
extracellular matrix protein 1
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
ERCC3
|
excision repair cross-complementation group 3
|
|
ERCC5
|
excision repair cross-complementation group 5
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
EXT1
|
exostosin glycosyltransferase 1
|
|
EXT2
|
exostosin glycosyltransferase 2
|
|
FAM111A
|
family with sequence similarity 111, member A
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FBN1
|
fibrillin 1
|
|
FGF23
|
fibroblast growth factor 23
|
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
|
GBA
|
glucosidase, beta, acid
|
|
GCM2
|
glial cells missing homolog 2 (Drosophila)
|
|
GGCX
|
gamma-glutamyl carboxylase
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GNA11
|
guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
|
|
GNAQ
|
guanine nucleotide binding protein (G protein), q polypeptide
|
|
GNAS
|
GNAS complex locus
|
|
GNPAT
|
glyceronephosphate O-acyltransferase
|
|
GUSB
|
glucuronidase, beta
|
|
HGD
|
homogentisate 1,2-dioxygenase
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
IFIH1
|
interferon induced with helicase C domain 1
|
|
IRF5
|
interferon regulatory factor 5
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
KIAA0319L
|
KIAA0319-like
|
|
KL
|
klotho
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
KRIT1
|
KRIT1, ankyrin repeat containing
|
|
LBR
|
lamin B receptor
|
|
LIPA
|
lipase A, lysosomal acid, cholesterol esterase
|
|
MGP
|
matrix Gla protein
|
|
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
|
|
MYO5A
|
myosin VA (heavy chain 12, myoxin)
|
|
ND1
|
|
|
NEU1
|
sialidase 1 (lysosomal sialidase)
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
NOTCH3
|
notch 3
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
NT5E
|
5'-nucleotidase, ecto (CD73)
|
|
OCLN
|
occludin
|
|
PAH
|
phenylalanine hydroxylase
|
|
PDGFB
|
platelet-derived growth factor beta polypeptide
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
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
|
|
PORCN
|
porcupine homolog (Drosophila)
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTCH1
|
patched 1
|
|
PTCH2
|
patched 2
|
|
PTH
|
parathyroid hormone
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
QDPR
|
quinoid dihydropteridine reductase
|
|
RB1
|
retinoblastoma 1
|
|
RNASEH2A
|
ribonuclease H2, subunit A
|
|
RNASEH2B
|
ribonuclease H2, subunit B
|
|
RNASEH2C
|
ribonuclease H2, subunit C
|
|
RNASET2
|
ribonuclease T2
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SAMHD1
|
SAM domain and HD domain 1
|
|
SC5D
|
sterol-C5-desaturase
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC20A2
|
solute carrier family 20 (phosphate transporter), member 2
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC29A3
|
solute carrier family 29 (equilibrative nucleoside transporter), member 3
|
|
SLC34A2
|
solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
|
|
SLC46A1
|
solute carrier family 46 (folate transporter), member 1
|
|
SMAD6
|
SMAD family member 6
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SPINK1
|
serine peptidase inhibitor, Kazal type 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SUFU
|
suppressor of fused homolog (Drosophila)
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
THRB
|
thyroid hormone receptor, beta
|
|
TIMM8A
|
translocase of inner mitochondrial membrane 8 homolog A (yeast)
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TREM2
|
triggering receptor expressed on myeloid cells 2
|
|
TREX1
|
three prime repair exonuclease 1
|
|
TSC1
|
tuberous sclerosis 1
|
|
TSC2
|
tuberous sclerosis 2
|
|
TYROBP
|
TYRO protein tyrosine kinase binding protein
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
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
|
