| Symbol |
Name |
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
B3GALTL
|
beta 1,3-galactosyltransferase-like
|
|
BBS1
|
Bardet-Biedl syndrome 1
|
|
BBS10
|
Bardet-Biedl syndrome 10
|
|
BBS12
|
Bardet-Biedl syndrome 12
|
|
BBS2
|
Bardet-Biedl syndrome 2
|
|
BBS4
|
Bardet-Biedl syndrome 4
|
|
BBS5
|
Bardet-Biedl syndrome 5
|
|
BBS7
|
Bardet-Biedl syndrome 7
|
|
BBS9
|
Bardet-Biedl syndrome 9
|
|
BCOR
|
BCL6 corepressor
|
|
BUB1
|
BUB1 mitotic checkpoint serine/threonine kinase
|
|
BUB1B
|
BUB1 mitotic checkpoint serine/threonine kinase B
|
|
BUB3
|
BUB3 mitotic checkpoint protein
|
|
CARD9
|
caspase recruitment domain family, member 9
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CEP57
|
centrosomal protein 57kDa
|
|
CHRM3
|
cholinergic receptor, muscarinic 3
|
|
CLEC7A
|
C-type lectin domain family 7, member A
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
COL7A1
|
collagen, type VII, alpha 1
|
|
CYP11B1
|
cytochrome P450, family 11, subfamily B, polypeptide 1
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FH
|
fumarate hydratase
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM1
|
FRAS1 related extracellular matrix 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GATA3
|
GATA binding protein 3
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
HOXA13
|
homeobox A13
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
IFT27
|
intraflagellar transport 27
|
|
IL10RB
|
interleukin 10 receptor, beta
|
|
IL17F
|
interleukin 17F
|
|
IL17RA
|
interleukin 17 receptor A
|
|
IRF6
|
interferon regulatory factor 6
|
|
ITGA8
|
integrin, alpha 8
|
|
KIF7
|
kinesin family member 7
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MNX1
|
motor neuron and pancreas homeobox 1
|
|
PAX2
|
paired box 2
|
|
PAX3
|
paired box 3
|
|
POR
|
P450 (cytochrome) oxidoreductase
|
|
RECQL4
|
RecQ protein-like 4
|
|
RET
|
ret proto-oncogene
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SOX18
|
SRY (sex determining region Y)-box 18
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
SRD5A2
|
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
|
|
SRY
|
sex determining region Y
|
|
STAT1
|
signal transducer and activator of transcription 1, 91kDa
|
|
TBX3
|
T-box 3
|
|
TNXB
|
tenascin XB
|
|
TP63
|
tumor protein p63
|
|
TRAF3IP2
|
TRAF3 interacting protein 2
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WNT3
|
wingless-type MMTV integration site family, member 3
|
|
WNT4
|
wingless-type MMTV integration site family, member 4
|
|
WT1
|
Wilms tumor 1
|
