| Symbol |
Name |
|
ARVCF
|
armadillo repeat gene deleted in velocardiofacial syndrome
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCR
|
breakpoint cluster region
|
|
BLM
|
Bloom syndrome, RecQ helicase-like
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
CHD7
|
chromodomain helicase DNA binding protein 7
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COMT
|
catechol-O-methyltransferase
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
DHODH
|
dihydroorotate dehydrogenase (quinone)
|
|
EBP
|
emopamil binding protein (sterol isomerase)
|
|
ELN
|
elastin
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
GORAB
|
golgin, RAB6-interacting
|
|
GP1BB
|
glycoprotein Ib (platelet), beta polypeptide
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HIRA
|
histone cell cycle regulator
|
|
KIF7
|
kinesin family member 7
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LIMK1
|
LIM domain kinase 1
|
|
LRP4
|
low density lipoprotein receptor-related protein 4
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MED12
|
mediator complex subunit 12
|
|
NDP
|
Norrie disease (pseudoglioma)
|
|
NF1
|
neurofibromin 1
|
|
NOTCH2
|
notch 2
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PEPD
|
peptidase D
|
|
PIK3R1
|
phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
|
|
POLR1C
|
polymerase (RNA) I polypeptide C, 30kDa
|
|
POLR1D
|
polymerase (RNA) I polypeptide D, 16kDa
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
PYCR1
|
pyrroline-5-carboxylate reductase 1
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RAB40AL
|
RAB40A, member RAS oncogene family-like
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SEMA3E
|
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
|
|
SF3B4
|
splicing factor 3b, subunit 4, 49kDa
|
|
SLC16A2
|
solute carrier family 16, member 2 (thyroid hormone transporter)
|
|
SLC2A10
|
solute carrier family 2 (facilitated glucose transporter), member 10
|
|
SLC6A8
|
solute carrier family 6 (neurotransmitter transporter), member 8
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SULF1
|
sulfatase 1
|
|
TAT
|
tyrosine aminotransferase
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX1
|
T-box 1
|
|
TBX22
|
T-box 22
|
|
TCOF1
|
Treacher Collins-Franceschetti syndrome 1
|
|
TGFBR1
|
transforming growth factor, beta receptor 1
|
|
TGFBR2
|
transforming growth factor, beta receptor II (70/80kDa)
|
|
UFD1L
|
ubiquitin fusion degradation 1 like (yeast)
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
ZDHHC9
|
zinc finger, DHHC-type containing 9
|
