| Symbol |
Name |
|
ADAMTSL2
|
ADAMTS-like 2
|
|
ARL6
|
ADP-ribosylation factor-like 6
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
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
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CDKL5
|
cyclin-dependent kinase-like 5
|
|
CEP290
|
centrosomal protein 290kDa
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL3A1
|
collagen, type III, alpha 1
|
|
CUL4B
|
cullin 4B
|
|
FBN1
|
fibrillin 1
|
|
FBXL4
|
F-box and leucine-rich repeat protein 4
|
|
FGD1
|
FYVE, RhoGEF and PH domain containing 1
|
|
FGFR1
|
fibroblast growth factor receptor 1
|
|
FMR1
|
fragile X mental retardation 1
|
|
GDF5
|
growth differentiation factor 5
|
|
GPC3
|
glypican 3
|
|
HDAC4
|
histone deacetylase 4
|
|
HDAC8
|
histone deacetylase 8
|
|
IFT27
|
intraflagellar transport 27
|
|
IFT80
|
intraflagellar transport 80
|
|
IMPAD1
|
inositol monophosphatase domain containing 1
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
KDM5C
|
lysine (K)-specific demethylase 5C
|
|
LIG4
|
ligase IV, DNA, ATP-dependent
|
|
LZTFL1
|
leucine zipper transcription factor-like 1
|
|
MASP1
|
mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
|
|
MBD5
|
methyl-CpG binding domain protein 5
|
|
MECP2
|
methyl CpG binding protein 2
|
|
MIPOL1
|
mirror-image polydactyly 1
|
|
MKKS
|
McKusick-Kaufman syndrome
|
|
MKS1
|
Meckel syndrome, type 1
|
|
NDN
|
necdin, melanoma antigen (MAGE) family member
|
|
NGLY1
|
N-glycanase 1
|
|
NOG
|
noggin
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
RECQL4
|
RecQ protein-like 4
|
|
SETBP1
|
SET binding protein 1
|
|
SLCO5A1
|
solute carrier organic anion transporter family, member 5A1
|
|
SMC3
|
structural maintenance of chromosomes 3
|
|
SNRPN
|
small nuclear ribonucleoprotein polypeptide N
|
|
SPG20
|
spastic paraplegia 20 (Troyer syndrome)
|
|
SULF1
|
sulfatase 1
|
|
TBCE
|
tubulin folding cofactor E
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TTC8
|
tetratricopeptide repeat domain 8
|
|
UBE2A
|
ubiquitin-conjugating enzyme E2A
|
|
WDPCP
|
WD repeat containing planar cell polarity effector
|
|
WDR19
|
WD repeat domain 19
|
|
WDR81
|
WD repeat domain 81
|
|
WNT7A
|
wingless-type MMTV integration site family, member 7A
|
|
ZDHHC15
|
zinc finger, DHHC-type containing 15
|
