| Symbol |
Name |
|
ADAMTS2
|
ADAM metallopeptidase with thrombospondin type 1 motif, 2
|
|
AGPAT2
|
1-acylglycerol-3-phosphate O-acyltransferase 2
|
|
AIP
|
aryl hydrocarbon receptor interacting protein
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ARSB
|
arylsulfatase B
|
|
ARX
|
aristaless related homeobox
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
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
|
|
BMP15
|
bone morphogenetic protein 15
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CREBBP
|
CREB binding protein
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FLNA
|
filamin A, alpha
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
GLI3
|
GLI family zinc finger 3
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GNS
|
glucosamine (N-acetyl)-6-sulfatase
|
|
GUSB
|
glucuronidase, beta
|
|
H6PD
|
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
|
|
HDAC8
|
histone deacetylase 8
|
|
HGSNAT
|
heparan-alpha-glucosaminide N-acetyltransferase
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IDUA
|
iduronidase, alpha-L-
|
|
IFT27
|
intraflagellar transport 27
|
|
KDM6A
|
lysine (K)-specific demethylase 6A
|
|
KMT2D
|
lysine (K)-specific methyltransferase 2D
|
|
LMNA
|
lamin A/C
|
|
LRPPRC
|
leucine-rich pentatricopeptide repeat containing
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MAP3K1
|
mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
|
|
MGAT2
|
mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MMP2
|
matrix metallopeptidase 2
|
|
NAGLU
|
N-acetylglucosaminidase, alpha
|
|
NIPBL
|
Nipped-B homolog (Drosophila)
|
|
NOTCH2
|
notch 2
|
|
PAPSS2
|
3'-phosphoadenosine 5'-phosphosulfate synthase 2
|
|
PPARG
|
peroxisome proliferator-activated receptor gamma
|
|
PPP1R3A
|
protein phosphatase 1, regulatory subunit 3A
|
|
PRKACA
|
protein kinase, cAMP-dependent, catalytic, alpha
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PTRF
|
polymerase I and transcript release factor
|
|
SGSH
|
N-sulfoglucosamine sulfohydrolase
|
|
SMARCA4
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
|
|
SMARCB1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SRCAP
|
Snf2-related CREBBP activator protein
|
|
TBC1D20
|
TBC1 domain family, member 20
|
|
TBX15
|
T-box 15
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR81
|
WD repeat domain 81
|
|
WNT4
|
wingless-type MMTV integration site family, member 4
|
