| Symbol |
Name |
|
ABCC6
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 6
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
COL1A1
|
collagen, type I, alpha 1
|
|
COL1A2
|
collagen, type I, alpha 2
|
|
COMT
|
catechol-O-methyltransferase
|
|
CTSK
|
cathepsin K
|
|
CYP21A2
|
cytochrome P450, family 21, subfamily A, polypeptide 2
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ENPP1
|
ectonucleotide pyrophosphatase/phosphodiesterase 1
|
|
ERCC2
|
excision repair cross-complementation group 2
|
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
|
GLE1
|
GLE1 RNA export mediator
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
HBB
|
hemoglobin, beta
|
|
HIRA
|
histone cell cycle regulator
|
|
JMJD1C
|
jumonji domain containing 1C
|
|
KCTD1
|
potassium channel tetramerization domain containing 1
|
|
KIF1B
|
kinesin family member 1B
|
|
KLHL40
|
kelch-like family member 40
|
|
KLHL41
|
kelch-like family member 41
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MMP2
|
matrix metallopeptidase 2
|
|
NEB
|
nebulin
|
|
NF1
|
neurofibromin 1
|
|
NOTCH3
|
notch 3
|
|
PDGFRB
|
platelet-derived growth factor receptor, beta polypeptide
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RIT1
|
Ras-like without CAAX 1
|
|
RREB1
|
ras responsive element binding protein 1
|
|
SEC24C
|
SEC24 family member C
|
|
SFRP4
|
secreted frizzled-related protein 4
|
|
SIN3A
|
SIN3 transcription regulator family member A
|
|
SLC17A5
|
solute carrier family 17 (acidic sugar transporter), member 5
|
|
TBX1
|
T-box 1
|
|
TPM3
|
tropomyosin 3
|
|
UFD1
|
ubiquitin recognition factor in ER associated degradation 1
|
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|
|
WRN
|
Werner syndrome, RecQ helicase-like
|
