| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
AGRN
|
agrin
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
B3GAT3
|
beta-1,3-glucuronyltransferase 3
|
|
B4GALT7
|
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
|
|
BMPER
|
BMP binding endothelial regulator
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CASR
|
calcium-sensing receptor
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CLCN7
|
chloride channel, voltage-sensitive 7
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
CRTAP
|
cartilage associated protein
|
|
CTSK
|
cathepsin K
|
|
DCHS1
|
dachsous cadherin-related 1
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DLG3
|
discs, large homolog 3 (Drosophila)
|
|
DOK7
|
docking protein 7
|
|
DYNC2H1
|
dynein, cytoplasmic 2, heavy chain 1
|
|
EVC
|
Ellis van Creveld protein
|
|
EVC2
|
Ellis van Creveld syndrome 2
|
|
FAM20C
|
family with sequence similarity 20, member C
|
|
FAT4
|
FAT atypical cadherin 4
|
|
FBN1
|
fibrillin 1
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
FLNB
|
filamin B, beta
|
|
GBA
|
glucosidase, beta, acid
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GPX4
|
glutathione peroxidase 4
|
|
HHAT
|
hedgehog acyltransferase
|
|
HSD17B4
|
hydroxysteroid (17-beta) dehydrogenase 4
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IFT122
|
intraflagellar transport 122
|
|
IFT140
|
intraflagellar transport 140
|
|
IFT172
|
intraflagellar transport 172
|
|
IFT43
|
intraflagellar transport 43
|
|
IFT80
|
intraflagellar transport 80
|
|
IHH
|
indian hedgehog
|
|
INPPL1
|
inositol polyphosphate phosphatase-like 1
|
|
KCNJ8
|
potassium channel, inwardly rectifying subfamily J, member 8
|
|
KLHL41
|
kelch-like family member 41
|
|
LBR
|
lamin B receptor
|
|
LMNA
|
lamin A/C
|
|
MATN3
|
matrilin 3
|
|
MBTPS2
|
membrane-bound transcription factor peptidase, site 2
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NEK1
|
NIMA-related kinase 1
|
|
ORC6
|
origin recognition complex, subunit 6
|
|
PCNT
|
pericentrin
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
RPS19
|
ribosomal protein S19
|
|
RUNX2
|
runt-related transcription factor 2
|
|
SBDS
|
Shwachman-Bodian-Diamond syndrome
|
|
SEC23A
|
Sec23 homolog A (S. cerevisiae)
|
|
SERPINH1
|
serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
|
|
SKI
|
SKI proto-oncogene
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SLC35D1
|
solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
|
|
SLC9A6
|
solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
|
|
SNX10
|
sorting nexin 10
|
|
SOX9
|
SRY (sex determining region Y)-box 9
|
|
TCIRG1
|
T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
|
|
TMCO1
|
transmembrane and coiled-coil domains 1
|
|
TNFSF11
|
tumor necrosis factor (ligand) superfamily, member 11
|
|
TRIP11
|
thyroid hormone receptor interactor 11
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTC21B
|
tetratricopeptide repeat domain 21B
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
UPF3B
|
UPF3 regulator of nonsense transcripts homolog B (yeast)
|
|
WDR19
|
WD repeat domain 19
|
|
WDR34
|
WD repeat domain 34
|
|
WDR35
|
WD repeat domain 35
|
|
WDR60
|
WD repeat domain 60
|
|
XYLT1
|
xylosyltransferase I
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
