| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
AARS2
|
alanyl-tRNA synthetase 2, mitochondrial
|
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTN2
|
actinin, alpha 2
|
|
AGK
|
acylglycerol kinase
|
|
AGRN
|
agrin
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ANKRD1
|
ankyrin repeat domain 1 (cardiac muscle)
|
|
ANO5
|
anoctamin 5
|
|
ATP2A1
|
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BIN1
|
bridging integrator 1
|
|
BRAF
|
B-Raf proto-oncogene, serine/threonine kinase
|
|
BSCL2
|
Berardinelli-Seip congenital lipodystrophy 2 (seipin)
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CACNA1A
|
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CALR3
|
calreticulin 3
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAV3
|
caveolin 3
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHRNA1
|
cholinergic receptor, nicotinic, alpha 1 (muscle)
|
|
CHRNB1
|
cholinergic receptor, nicotinic, beta 1 (muscle)
|
|
CHRND
|
cholinergic receptor, nicotinic, delta (muscle)
|
|
CHRNE
|
cholinergic receptor, nicotinic, epsilon (muscle)
|
|
CLCN1
|
chloride channel, voltage-sensitive 1
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
CRYAB
|
crystallin, alpha B
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CTNNA3
|
catenin (cadherin-associated protein), alpha 3
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DES
|
desmin
|
|
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
|
DMD
|
dystrophin
|
|
DMPK
|
dystrophia myotonica-protein kinase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNAJC19
|
DnaJ (Hsp40) homolog, subfamily C, member 19
|
|
DNM2
|
dynamin 2
|
|
DOK7
|
docking protein 7
|
|
DPAGT1
|
dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
DPM2
|
dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
|
|
DPM3
|
dolichyl-phosphate mannosyltransferase polypeptide 3
|
|
DSC2
|
desmocollin 2
|
|
DSG2
|
desmoglein 2
|
|
DSP
|
desmoplakin
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EGR2
|
early growth response 2
|
|
EMD
|
emerin
|
|
EYA4
|
EYA transcriptional coactivator and phosphatase 4
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNC
|
filamin C, gamma
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GATA4
|
GATA binding protein 4
|
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GJA5
|
gap junction protein, alpha 5, 40kDa
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
HIST1H2AG
|
histone cluster 1, H2ag
|
|
HK1
|
hexokinase 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA7
|
integrin, alpha 7
|
|
JPH2
|
junctophilin 2
|
|
JUP
|
junction plakoglobin
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KIF1B
|
kinesin family member 1B
|
|
KLHL40
|
kelch-like family member 40
|
|
KRAS
|
Kirsten rat sarcoma viral oncogene homolog
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMA4
|
laminin, alpha 4
|
|
LARGE
|
like-glycosyltransferase
|
|
LDB3
|
LIM domain binding 3
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MAP2K1
|
mitogen-activated protein kinase kinase 1
|
|
MAP2K2
|
mitogen-activated protein kinase kinase 2
|
|
MED25
|
mediator complex subunit 25
|
|
MFN2
|
mitofusin 2
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MPZ
|
myelin protein zero
|
|
MTMR2
|
myotubularin related protein 2
|
|
MTO1
|
mitochondrial tRNA translation optimization 1
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYL3
|
myosin, light chain 3, alkali; ventricular, skeletal, slow
|
|
MYLK2
|
myosin light chain kinase 2
|
|
MYOT
|
myotilin
|
|
MYOZ2
|
myozenin 2
|
|
MYPN
|
myopalladin
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEB
|
nebulin
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NEXN
|
nexilin (F actin binding protein)
|
|
NPPA
|
natriuretic peptide A
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PKP2
|
plakophilin 2
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PLN
|
phospholamban
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMGNT2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAG2
|
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RBM20
|
RNA binding motif protein 20
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
RYR2
|
ryanodine receptor 2 (cardiac)
|
|
SBF1
|
SET binding factor 1
|
|
SBF2
|
SET binding factor 2
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SCO2
|
SCO2 cytochrome c oxidase assembly protein
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEPN1
|
selenoprotein N, 1
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SH3TC2
|
SH3 domain and tetratricopeptide repeats 2
|
|
SLC1A3
|
solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TAZ
|
tafazzin
|
|
TBX20
|
T-box 20
|
|
TCAP
|
titin-cap
|
|
TGFB3
|
transforming growth factor, beta 3
|
|
TMEM43
|
transmembrane protein 43
|
|
TMEM5
|
transmembrane protein 5
|
|
TMPO
|
thymopoietin
|
|
TNNC1
|
troponin C type 1 (slow)
|
|
TNNI3
|
troponin I type 3 (cardiac)
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TNNT2
|
troponin T type 2 (cardiac)
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRIM2
|
tripartite motif containing 2
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTN
|
titin
|
|
TXNDC12
|
thioredoxin domain containing 12 (endoplasmic reticulum)
|
|
TYMP
|
thymidine phosphorylase
|
|
VCL
|
vinculin
|
|
YARS
|
tyrosyl-tRNA synthetase
|
|
ZFPM2
|
zinc finger protein, FOG family member 2
|
