Symbol |
Name |
AIRE
|
autoimmune regulator
|
ALDH3A2
|
aldehyde dehydrogenase 3 family, member A2
|
ATR
|
ATR serine/threonine kinase
|
C12ORF57
|
chromosome 12 open reading frame 57
|
CLDN1
|
claudin 1
|
COG6
|
component of oligomeric golgi complex 6
|
COL7A1
|
collagen, type VII, alpha 1
|
CREBBP
|
CREB binding protein
|
CYP27B1
|
cytochrome P450, family 27, subfamily B, polypeptide 1
|
ERCC4
|
excision repair cross-complementation group 4
|
ERCC6
|
excision repair cross-complementation group 6
|
ERCC8
|
excision repair cross-complementation group 8
|
FAM20C
|
family with sequence similarity 20, member C
|
FGF10
|
fibroblast growth factor 10
|
FGF23
|
fibroblast growth factor 23
|
FGFR2
|
fibroblast growth factor receptor 2
|
FGFR3
|
fibroblast growth factor receptor 3
|
FLNB
|
filamin B, beta
|
GALNT3
|
polypeptide N-acetylgalactosaminyltransferase 3
|
GJA1
|
gap junction protein, alpha 1, 43kDa
|
GNAS
|
GNAS complex locus
|
IFT122
|
intraflagellar transport 122
|
IFT43
|
intraflagellar transport 43
|
ITGA6
|
integrin, alpha 6
|
ITGB4
|
integrin, beta 4
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
KIF7
|
kinesin family member 7
|
KL
|
klotho
|
LAMA3
|
laminin, alpha 3
|
LAMB3
|
laminin, beta 3
|
LAMC2
|
laminin, gamma 2
|
LMNA
|
lamin A/C
|
MPLKIP
|
M-phase specific PLK1 interacting protein
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
OFD1
|
oral-facial-digital syndrome 1
|
PCNT
|
pericentrin
|
PLEC
|
plectin
|
PORCN
|
porcupine homolog (Drosophila)
|
PVRL4
|
poliovirus receptor-related 4
|
ROGDI
|
rogdi homolog (Drosophila)
|
RUNX2
|
runt-related transcription factor 2
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
VDR
|
vitamin D (1,25- dihydroxyvitamin D3) receptor
|