| Symbol |
Name |
|
ADGRV1
|
adhesion G protein-coupled receptor V1
|
|
AGA
|
aspartylglucosaminidase
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AP3B1
|
adaptor-related protein complex 3, beta 1 subunit
|
|
APC
|
adenomatous polyposis coli
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
ATR
|
ATR serine/threonine kinase
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
CA2
|
carbonic anhydrase II
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CDH3
|
cadherin 3, type 1, P-cadherin (placental)
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
CNNM4
|
cyclin and CBS domain divalent metal cation transport mediator 4
|
|
COG6
|
component of oligomeric golgi complex 6
|
|
COL17A1
|
collagen, type XVII, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
COX4I2
|
cytochrome c oxidase subunit IV isoform 2 (lung)
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
CTC1
|
CTS telomere maintenance complex component 1
|
|
CTGF
|
connective tissue growth factor
|
|
CTSK
|
cathepsin K
|
|
DFNB31
|
deafness, autosomal recessive 31
|
|
DKC1
|
dyskeratosis congenita 1, dyskerin
|
|
DLX3
|
distal-less homeobox 3
|
|
DST
|
dystonin
|
|
ELANE
|
elastase, neutrophil expressed
|
|
ELN
|
elastin
|
|
EP300
|
E1A binding protein p300
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ERCC8
|
excision repair cross-complementation group 8
|
|
FERMT1
|
fermitin family member 1
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GJB6
|
gap junction protein, beta 6, 30kDa
|
|
GLB1
|
galactosidase, beta 1
|
|
GNAS
|
GNAS complex locus
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HIRA
|
histone cell cycle regulator
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
IRF5
|
interferon regulatory factor 5
|
|
ITGB4
|
integrin, beta 4
|
|
KRT14
|
keratin 14, type I
|
|
KRT16
|
keratin 16, type I
|
|
KRT17
|
keratin 17, type I
|
|
KRT6A
|
keratin 6A, type II
|
|
KRT6B
|
keratin 6B, type II
|
|
LAMA3
|
laminin, alpha 3
|
|
LAMB3
|
laminin, beta 3
|
|
LAMC2
|
laminin, gamma 2
|
|
LIMK1
|
LIM domain kinase 1
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
MMP1
|
matrix metallopeptidase 1
|
|
MMP13
|
matrix metallopeptidase 13
|
|
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
|
|
MYO7A
|
myosin VIIA
|
|
ND1
|
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NHP2
|
NHP2 ribonucleoprotein
|
|
NOP10
|
NOP10 ribonucleoprotein
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAX1
|
paired box 1
|
|
PDZD7
|
PDZ domain containing 7
|
|
PEPD
|
peptidase D
|
|
PLEC
|
plectin
|
|
PTCH1
|
patched 1
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RBM28
|
RNA binding motif protein 28
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RTEL1
|
regulator of telomere elongation helicase 1
|
|
SAT1
|
spermidine/spermine N1-acetyltransferase 1
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SHOC2
|
soc-2 suppressor of clear homolog (C. elegans)
|
|
SLC24A4
|
solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TERC
|
telomerase RNA component
|
|
TERT
|
telomerase reverse transcriptase
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
THOC6
|
THO complex 6
|
|
TINF2
|
TERF1 (TRF1)-interacting nuclear factor 2
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TP63
|
tumor protein p63
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV3
|
transient receptor potential cation channel, subfamily V, member 3
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
USB1
|
U6 snRNA biogenesis 1
|
|
USH2A
|
Usher syndrome 2A (autosomal recessive, mild)
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WRAP53
|
WD repeat containing, antisense to TP53
|
