| Symbol |
Name |
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
ALX3
|
ALX homeobox 3
|
|
ANO5
|
anoctamin 5
|
|
ATP6V0A2
|
ATPase, H+ transporting, lysosomal V0 subunit a2
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
BIN1
|
bridging integrator 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CAPN3
|
calpain 3, (p94)
|
|
CUL7
|
cullin 7
|
|
DCTN1
|
dynactin 1
|
|
DES
|
desmin
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
EYA1
|
EYA transcriptional coactivator and phosphatase 1
|
|
FBXO38
|
F-box protein 38
|
|
FGF10
|
fibroblast growth factor 10
|
|
FGFR2
|
fibroblast growth factor receptor 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FLNA
|
filamin A, alpha
|
|
FLNC
|
filamin C, gamma
|
|
GARS
|
glycyl-tRNA synthetase
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
HOXA13
|
homeobox A13
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
KANSL1
|
KAT8 regulatory NSL complex subunit 1
|
|
KCNJ2
|
potassium channel, inwardly rectifying subfamily J, member 2
|
|
LMNA
|
lamin A/C
|
|
LMX1B
|
LIM homeobox transcription factor 1, beta
|
|
MATR3
|
matrin 3
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NSDHL
|
NAD(P) dependent steroid dehydrogenase-like
|
|
PAX1
|
paired box 1
|
|
PAX3
|
paired box 3
|
|
PLOD3
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
|
|
PTPN11
|
protein tyrosine phosphatase, non-receptor type 11
|
|
RBM8A
|
RNA binding motif protein 8A
|
|
RPL11
|
ribosomal protein L11
|
|
SALL4
|
spalt-like transcription factor 4
|
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SLC39A13
|
solute carrier family 39 (zinc transporter), member 13
|
|
SLC52A3
|
solute carrier family 52 (riboflavin transporter), member 3
|
|
SPG11
|
spastic paraplegia 11 (autosomal recessive)
|
|
STIM1
|
stromal interaction molecule 1
|
|
TBX3
|
T-box 3
|
|
TBX5
|
T-box 5
|
|
TCAP
|
titin-cap
|
|
TNPO3
|
transportin 3
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPS1
|
trichorhinophalangeal syndrome I
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
VCP
|
valosin containing protein
|
