| Symbol |
Name |
|
ACAN
|
aggrecan
|
|
ACP5
|
acid phosphatase 5, tartrate resistant
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ADAMTS10
|
ADAM metallopeptidase with thrombospondin type 1 motif, 10
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
ARSB
|
arylsulfatase B
|
|
B3GALT6
|
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BCOR
|
BCL6 corepressor
|
|
BCR
|
breakpoint cluster region
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
CANT1
|
calcium activated nucleotidase 1
|
|
CCDC8
|
coiled-coil domain containing 8
|
|
CHST3
|
carbohydrate (chondroitin 6) sulfotransferase 3
|
|
CLCF1
|
cardiotrophin-like cytokine factor 1
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL11A2
|
collagen, type XI, alpha 2
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
COMP
|
cartilage oligomeric matrix protein
|
|
CRKL
|
v-crk avian sarcoma virus CT10 oncogene homolog-like
|
|
CTSK
|
cathepsin K
|
|
CUL7
|
cullin 7
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DMD
|
dystrophin
|
|
DUX4
|
double homeobox 4
|
|
DYM
|
dymeclin
|
|
ECEL1
|
endothelin converting enzyme-like 1
|
|
EIF2AK3
|
eukaryotic translation initiation factor 2-alpha kinase 3
|
|
ELN
|
elastin
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FBN1
|
fibrillin 1
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNB
|
filamin B, beta
|
|
FRG1
|
FSHD region gene 1
|
|
FUCA1
|
fucosidase, alpha-L- 1, tissue
|
|
GALNS
|
galactosamine (N-acetyl)-6-sulfatase
|
|
GLB1
|
galactosidase, beta 1
|
|
GNPTAB
|
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
|
|
GNPTG
|
N-acetylglucosamine-1-phosphate transferase, gamma subunit
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HSD17B10
|
hydroxysteroid (17-beta) dehydrogenase 10
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IHH
|
indian hedgehog
|
|
KIF1A
|
kinesin family member 1A
|
|
L1CAM
|
L1 cell adhesion molecule
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
MAPK1
|
mitogen-activated protein kinase 1
|
|
MATN3
|
matrilin 3
|
|
MED12
|
mediator complex subunit 12
|
|
MFN2
|
mitofusin 2
|
|
MMP13
|
matrix metallopeptidase 13
|
|
NAA10
|
N(alpha)-acetyltransferase 10, NatA catalytic subunit
|
|
NEB
|
nebulin
|
|
NPR2
|
natriuretic peptide receptor 2
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
OBSL1
|
obscurin-like 1
|
|
PCYT1A
|
phosphate cytidylyltransferase 1, choline, alpha
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PVRL1
|
poliovirus receptor-related 1 (herpesvirus entry mediator C)
|
|
RAB3GAP1
|
RAB3 GTPase activating protein subunit 1 (catalytic)
|
|
RAB3GAP2
|
RAB3 GTPase activating protein subunit 2 (non-catalytic)
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMRP
|
RNA component of mitochondrial RNA processing endoribonuclease
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
SEPN1
|
selenoprotein N, 1
|
|
SETD5
|
SET domain containing 5
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SHOX
|
short stature homeobox
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SMARCAL1
|
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
|
|
SMCHD1
|
structural maintenance of chromosomes flexible hinge domain containing 1
|
|
TBL2
|
transducin (beta)-like 2
|
|
TBX6
|
T-box 6
|
|
TFAP2A
|
transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
|
|
TGFB1
|
transforming growth factor, beta 1
|
|
TOR1A
|
torsin family 1, member A (torsin A)
|
|
TPM3
|
tropomyosin 3
|
|
TRAPPC2
|
trafficking protein particle complex 2
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
VCP
|
valosin containing protein
|
|
VPS13B
|
vacuolar protein sorting 13 homolog B (yeast)
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
