| Symbol |
Name |
|
AARS
|
alanyl-tRNA synthetase
|
|
ABHD12
|
abhydrolase domain containing 12
|
|
AGRN
|
agrin
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ANO5
|
anoctamin 5
|
|
AP1S1
|
adaptor-related protein complex 1, sigma 1 subunit
|
|
APOA1
|
apolipoprotein A-I
|
|
ATL1
|
atlastin GTPase 1
|
|
ATL3
|
atlastin GTPase 3
|
|
ATP2A1
|
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
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
|
|
CACNB4
|
calcium channel, voltage-dependent, beta 4 subunit
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAV3
|
caveolin 3
|
|
CCT5
|
chaperonin containing TCP1, subunit 5 (epsilon)
|
|
CHAT
|
choline O-acetyltransferase
|
|
CHN1
|
chimerin 1
|
|
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)
|
|
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
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DCAF8
|
DDB1 and CUL4 associated factor 8
|
|
DES
|
desmin
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DHTKD1
|
dehydrogenase E1 and transketolase domain containing 1
|
|
DIAPH3
|
diaphanous-related formin 3
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
DNM2
|
dynamin 2
|
|
DNMT1
|
DNA (cytosine-5-)-methyltransferase 1
|
|
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
|
|
DST
|
dystonin
|
|
DYNC1H1
|
dynein, cytoplasmic 1, heavy chain 1
|
|
DYSF
|
dysferlin
|
|
EGR2
|
early growth response 2
|
|
EMD
|
emerin
|
|
FAM134B
|
family with sequence similarity 134, member B
|
|
FGD4
|
FYVE, RhoGEF and PH domain containing 4
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
GAN
|
gigaxonin
|
|
GARS
|
glycyl-tRNA synthetase
|
|
GDAP1
|
ganglioside induced differentiation associated protein 1
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNB4
|
guanine nucleotide binding protein (G protein), beta polypeptide 4
|
|
HARS
|
histidyl-tRNA synthetase
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HIST1H2AG
|
histone cluster 1, H2ag
|
|
HK1
|
hexokinase 1
|
|
HSPB1
|
heat shock 27kDa protein 1
|
|
HSPB8
|
heat shock 22kDa protein 8
|
|
IKBKAP
|
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
INF2
|
inverted formin, FH2 and WH2 domain containing
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA7
|
integrin, alpha 7
|
|
KARS
|
lysyl-tRNA synthetase
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
KIF1A
|
kinesin family member 1A
|
|
KIF1B
|
kinesin family member 1B
|
|
LAMA2
|
laminin, alpha 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LITAF
|
lipopolysaccharide-induced TNF factor
|
|
LMNA
|
lamin A/C
|
|
LRSAM1
|
leucine rich repeat and sterile alpha motif containing 1
|
|
MED25
|
mediator complex subunit 25
|
|
MFN2
|
mitofusin 2
|
|
MPV17
|
MpV17 mitochondrial inner membrane protein
|
|
MPZ
|
myelin protein zero
|
|
MTMR2
|
myotubularin related protein 2
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYOT
|
myotilin
|
|
NDRG1
|
N-myc downstream regulated 1
|
|
NEFL
|
neurofilament, light polypeptide
|
|
NGF
|
nerve growth factor (beta polypeptide)
|
|
NTRK1
|
neurotrophic tyrosine kinase, receptor, type 1
|
|
OTOF
|
otoferlin
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PDK3
|
pyruvate dehydrogenase kinase, isozyme 3
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PMP22
|
peripheral myelin protein 22
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
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
|
|
PRPS1
|
phosphoribosyl pyrophosphate synthetase 1
|
|
PRX
|
periaxin
|
|
RAB7A
|
RAB7A, member RAS oncogene family
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
RRM2B
|
ribonucleotide reductase M2 B (TP53 inducible)
|
|
SBF1
|
SET binding factor 1
|
|
SBF2
|
SET binding factor 2
|
|
SCN11A
|
sodium channel, voltage gated, type XI alpha subunit
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN9A
|
sodium channel, voltage gated, type IX alpha subunit
|
|
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
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SPTLC1
|
serine palmitoyltransferase, long chain base subunit 1
|
|
SPTLC2
|
serine palmitoyltransferase, long chain base subunit 2
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TCAP
|
titin-cap
|
|
TFG
|
TRK-fused gene
|
|
TMEM43
|
transmembrane protein 43
|
|
TMEM5
|
transmembrane protein 5
|
|
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
|
|
TTN
|
titin
|
|
TTR
|
transthyretin
|
|
TXNDC12
|
thioredoxin domain containing 12 (endoplasmic reticulum)
|
|
WNK1
|
WNK lysine deficient protein kinase 1
|
|
YARS
|
tyrosyl-tRNA synthetase
|
