| Symbol |
Name |
|
AMER1
|
APC membrane recruitment protein 1
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ATR
|
ATR serine/threonine kinase
|
|
BANF1
|
barrier to autointegration factor 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
|
|
C12ORF57
|
chromosome 12 open reading frame 57
|
|
CBS
|
cystathionine-beta-synthase
|
|
CEP290
|
centrosomal protein 290kDa
|
|
CREBBP
|
CREB binding protein
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
DSE
|
dermatan sulfate epimerase
|
|
FBN1
|
fibrillin 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FRAS1
|
Fraser extracellular matrix complex subunit 1
|
|
FREM2
|
FRAS1 related extracellular matrix protein 2
|
|
GNAI3
|
guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
|
|
GRIP1
|
glutamate receptor interacting protein 1
|
|
IFT27
|
intraflagellar transport 27
|
|
IL1RAPL1
|
interleukin 1 receptor accessory protein-like 1
|
|
LMNA
|
lamin A/C
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MED12
|
mediator complex subunit 12
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
PLCB4
|
phospholipase C, beta 4
|
|
PLOD1
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
|
|
POLD1
|
polymerase (DNA directed), delta 1, catalytic subunit
|
|
ROR2
|
receptor tyrosine kinase-like orphan receptor 2
|
|
SATB2
|
SATB homeobox 2
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SETD5
|
SET domain containing 5
|
|
SMS
|
spermine synthase
|
|
TECPR2
|
tectonin beta-propeller repeat containing 2
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRIM37
|
tripartite motif containing 37
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WNT5A
|
wingless-type MMTV integration site family, member 5A
|
|
ZMPSTE24
|
zinc metallopeptidase STE24
|
