| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ANG
|
angiogenin, ribonuclease, RNase A family, 5
|
|
ANO5
|
anoctamin 5
|
|
ATP7A
|
ATPase, Cu++ transporting, alpha polypeptide
|
|
BIN1
|
bridging integrator 1
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
CRYAB
|
crystallin, alpha B
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DCTN1
|
dynactin 1
|
|
DES
|
desmin
|
|
DNM2
|
dynamin 2
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EGR2
|
early growth response 2
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FLVCR1
|
feline leukemia virus subgroup C cellular receptor 1
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GRIA3
|
glutamate receptor, ionotropic, AMPA 3
|
|
HK1
|
hexokinase 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB3
|
heat shock 27kDa protein 3
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
IGHMBP2
|
immunoglobulin mu binding protein 2
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
KIF1B
|
kinesin family member 1B
|
|
LDB3
|
LIM domain binding 3
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MATR3
|
matrin 3
|
|
MED25
|
mediator complex subunit 25
|
|
MFN2
|
mitofusin 2
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MTMR2
|
myotubularin related protein 2
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
NAGA
|
N-acetylgalactosaminidase, alpha-
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PMP22
|
peripheral myelin protein 22
|
|
PNPLA6
|
patatin-like phospholipase domain containing 6
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
REEP1
|
receptor accessory protein 1
|
|
SACS
|
sacsin molecular chaperone
|
|
SBF2
|
SET binding factor 2
|
|
SETX
|
senataxin
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC5A7
|
solute carrier family 5 (sodium/choline cotransporter), member 7
|
|
SOX10
|
SRY (sex determining region Y)-box 10
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
SPTLC2
|
serine palmitoyltransferase, long chain base subunit 2
|
|
TCAP
|
titin-cap
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TNPO3
|
transportin 3
|
|
TPM3
|
tropomyosin 3
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TTN
|
titin
|
|
TYMP
|
thymidine phosphorylase
|
|
VAPB
|
VAMP (vesicle-associated membrane protein)-associated protein B and C
|
|
YARS
|
tyrosyl-tRNA synthetase
|
