| Symbol |
Name |
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACHE
|
acetylcholinesterase (Yt blood group)
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTG2
|
actin, gamma 2, smooth muscle, enteric
|
|
ANO5
|
anoctamin 5
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BIN1
|
bridging integrator 1
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CAPN1
|
calpain 1, (mu/I) large subunit
|
|
CAV3
|
caveolin 3
|
|
CCDC78
|
coiled-coil domain containing 78
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLN3
|
ceroid-lipofuscinosis, neuronal 3
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
CNTN1
|
contactin 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL9A1
|
collagen, type IX, alpha 1
|
|
COL9A2
|
collagen, type IX, alpha 2
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COX2
|
|
|
COX3
|
|
|
CRYAB
|
crystallin, alpha B
|
|
CRYBA2
|
crystallin, beta A2
|
|
CXCL10
|
chemokine (C-X-C motif) ligand 10
|
|
CYP17A1
|
cytochrome P450, family 17, subfamily A, polypeptide 1
|
|
DES
|
desmin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNM2
|
dynamin 2
|
|
DNM3
|
dynamin 3
|
|
DYSF
|
dysferlin
|
|
ETFDH
|
electron-transferring-flavoprotein dehydrogenase
|
|
EYS
|
eyes shut homolog (Drosophila)
|
|
FAM111B
|
family with sequence similarity 111, member B
|
|
FDX1L
|
ferredoxin 1-like
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNC
|
filamin C, gamma
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HMGCR
|
3-hydroxy-3-methylglutaryl-CoA reductase
|
|
HNRNPA1
|
heterogeneous nuclear ribonucleoprotein A1
|
|
HNRNPA2B1
|
heterogeneous nuclear ribonucleoprotein A2/B1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSP90AA1
|
heat shock protein 90kDa alpha (cytosolic), class A member 1
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IBA57
|
IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
|
|
IGF2BP1
|
insulin-like growth factor 2 mRNA binding protein 1
|
|
IL1B
|
interleukin 1, beta
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
ITGA7
|
integrin, alpha 7
|
|
ITPR1
|
inositol 1,4,5-trisphosphate receptor, type 1
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KLHL40
|
kelch-like family member 40
|
|
KLHL9
|
kelch-like family member 9
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LMNA
|
lamin A/C
|
|
LPIN1
|
lipin 1
|
|
MAMLD1
|
mastermind-like domain containing 1
|
|
MATR3
|
matrin 3
|
|
MEFV
|
Mediterranean fever
|
|
MEGF10
|
multiple EGF-like-domains 10
|
|
MT-CYB
|
cytochrome b
|
|
MT-TF
|
tRNA
|
|
MT-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MTM1
|
myotubularin 1
|
|
MTMR14
|
myotubularin related protein 14
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH2
|
myosin, heavy chain 2, skeletal muscle, adult
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYH7B
|
myosin, heavy chain 7B, cardiac muscle, beta
|
|
MYOT
|
myotilin
|
|
NCAM1
|
neural cell adhesion molecule 1
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NFKBIL1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
|
|
NOS1
|
nitric oxide synthase 1 (neuronal)
|
|
NOS2
|
nitric oxide synthase 2, inducible
|
|
OBSL1
|
obscurin-like 1
|
|
OPTN
|
optineurin
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PDCD5
|
programmed cell death 5
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
PPARGC1A
|
peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRKCA
|
protein kinase C, alpha
|
|
PRKCH
|
protein kinase C, eta
|
|
PRKCZ
|
protein kinase C, zeta
|
|
PTBP1
|
polypyrimidine tract binding protein 1
|
|
PTPN22
|
protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PUS1
|
pseudouridylate synthase 1
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
RNR2
|
RNA, ribosomal cluster 2
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SARS2
|
seryl-tRNA synthetase 2, mitochondrial
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SEPN1
|
selenoprotein N, 1
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SLC2A4
|
solute carrier family 2 (facilitated glucose transporter), member 4
|
|
SLCO1B1
|
solute carrier organic anion transporter family, member 1B1
|
|
SOD1
|
superoxide dismutase 1, soluble
|
|
SPTAN1
|
spectrin, alpha, non-erythrocytic 1
|
|
STAC3
|
SH3 and cysteine rich domain 3
|
|
STIM1
|
stromal interaction molecule 1
|
|
TARDBP
|
TAR DNA binding protein
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM43
|
transmembrane protein 43
|
|
TNFRSF1A
|
tumor necrosis factor receptor superfamily, member 1A
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRIM28
|
tripartite motif containing 28
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRNE
|
|
|
TTN
|
titin
|
|
VCP
|
valosin containing protein
|
|
VMA21
|
VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
|
