| Symbol |
Name |
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
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
|
|
BMPR1B
|
bone morphogenetic protein receptor, type IB
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CEP290
|
centrosomal protein 290kDa
|
|
DYM
|
dymeclin
|
|
EZH2
|
enhancer of zeste 2 polycomb repressive complex 2 subunit
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FOS
|
FBJ murine osteosarcoma viral oncogene homolog
|
|
GPC3
|
glypican 3
|
|
GPC4
|
glypican 4
|
|
IFT27
|
intraflagellar transport 27
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NLRP3
|
NLR family, pyrin domain containing 3
|
|
NSD1
|
nuclear receptor binding SET domain protein 1
|
|
PHF6
|
PHD finger protein 6
|
|
PHGDH
|
phosphoglycerate dehydrogenase
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PSAT1
|
phosphoserine aminotransferase 1
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
XYLT1
|
xylosyltransferase I
|