| Symbol |
Name |
|
ACTB
|
actin, beta
|
|
ACTG1
|
actin gamma 1
|
|
ADAMTSL2
|
ADAMTS-like 2
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B9D1
|
B9 protein domain 1
|
|
B9D2
|
B9 protein domain 2
|
|
BMP2
|
bone morphogenetic protein 2
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
CC2D2A
|
coiled-coil and C2 domain containing 2A
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CRLF1
|
cytokine receptor-like factor 1
|
|
EDN1
|
endothelin 1
|
|
EFEMP2
|
EGF containing fibulin-like extracellular matrix protein 2
|
|
ELN
|
elastin
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FBLN5
|
fibulin 5
|
|
FBN1
|
fibrillin 1
|
|
FGF3
|
fibroblast growth factor 3
|
|
FLNA
|
filamin A, alpha
|
|
GNAS
|
GNAS complex locus
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT122
|
intraflagellar transport 122
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
KIF11
|
kinesin family member 11
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LMNA
|
lamin A/C
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MOCS1
|
molybdenum cofactor synthesis 1
|
|
MOCS2
|
molybdenum cofactor synthesis 2
|
|
NOTCH2
|
notch 2
|
|
NRAS
|
neuroblastoma RAS viral (v-ras) oncogene homolog
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
PAX1
|
paired box 1
|
|
PCNT
|
pericentrin
|
|
PIK3CA
|
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
|
|
RPGRIP1
|
retinitis pigmentosa GTPase regulator interacting protein 1
|
|
RPGRIP1L
|
RPGRIP1-like
|
|
SH3PXD2B
|
SH3 and PX domains 2B
|
|
SHANK3
|
SH3 and multiple ankyrin repeat domains 3
|
|
SIM1
|
single-minded family bHLH transcription factor 1
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
TAZ
|
tafazzin
|
|
TCF4
|
transcription factor 4
|
|
TCTN2
|
tectonic family member 2
|
|
TMEM216
|
transmembrane protein 216
|
|
TMEM231
|
transmembrane protein 231
|
|
TMEM67
|
transmembrane protein 67
|
|
TUBB4A
|
tubulin, beta 4A class IVa
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR19
|
WD repeat domain 19
|
