| Symbol |
Name |
|
ACADVL
|
acyl-CoA dehydrogenase, very long chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTN4
|
actinin, alpha 4
|
|
ADCK4
|
aarF domain containing kinase 4
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AIFM1
|
apoptosis-inducing factor, mitochondrion-associated, 1
|
|
ANO5
|
anoctamin 5
|
|
APTX
|
aprataxin
|
|
AR
|
androgen receptor
|
|
ARHGDIA
|
Rho GDP dissociation inhibitor (GDI) alpha
|
|
ATM
|
ATM serine/threonine kinase
|
|
B2M
|
beta-2-microglobulin
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B3GNT1
|
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BMPR1A
|
bone morphogenetic protein receptor, type IA
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CAPN3
|
calpain 3, (p94)
|
|
CAV3
|
caveolin 3
|
|
CCBE1
|
collagen and calcium binding EGF domains 1
|
|
CHKB
|
choline kinase beta
|
|
CNBP
|
CCHC-type zinc finger, nucleic acid binding protein
|
|
COG8
|
component of oligomeric golgi complex 8
|
|
COL4A1
|
collagen, type IV, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COL9A3
|
collagen, type IX, alpha 3
|
|
COQ2
|
coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
|
|
CPT1A
|
carnitine palmitoyltransferase 1A (liver)
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRYAB
|
crystallin, alpha B
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DCLRE1C
|
DNA cross-link repair 1C
|
|
DGAT1
|
diacylglycerol O-acyltransferase 1
|
|
DGUOK
|
deoxyguanosine kinase
|
|
DMD
|
dystrophin
|
|
DMGDH
|
dimethylglycine dehydrogenase
|
|
DNA2
|
DNA replication helicase/nuclease 2
|
|
DNAJB6
|
DnaJ (Hsp40) homolog, subfamily B, member 6
|
|
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
|
|
DYSF
|
dysferlin
|
|
EMD
|
emerin
|
|
ENO3
|
enolase 3 (beta, muscle)
|
|
FAH
|
fumarylacetoacetate hydrolase (fumarylacetoacetase)
|
|
FAM111B
|
family with sequence similarity 111, member B
|
|
FHL1
|
four and a half LIM domains 1
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNC
|
filamin C, gamma
|
|
GAA
|
glucosidase, alpha; acid
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GOSR2
|
golgi SNAP receptor complex member 2
|
|
HINT1
|
histidine triad nucleotide binding protein 1
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
ISPD
|
isoprenoid synthase domain containing
|
|
ITGA6
|
integrin, alpha 6
|
|
ITGA7
|
integrin, alpha 7
|
|
ITGB4
|
integrin, beta 4
|
|
KCNA1
|
potassium channel, voltage gated shaker related subfamily A, member 1
|
|
LAMA2
|
laminin, alpha 2
|
|
LAMB2
|
laminin, beta 2 (laminin S)
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LDB3
|
LIM domain binding 3
|
|
LDHA
|
lactate dehydrogenase A
|
|
LMNA
|
lamin A/C
|
|
LPIN1
|
lipin 1
|
|
MATR3
|
matrin 3
|
|
MGME1
|
mitochondrial genome maintenance exonuclease 1
|
|
MKS1
|
Meckel syndrome, type 1
|
|
MPI
|
mannose phosphate isomerase
|
|
MVK
|
mevalonate kinase
|
|
MYF6
|
myogenic factor 6 (herculin)
|
|
MYH14
|
myosin, heavy chain 14, non-muscle
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYO1E
|
myosin IE
|
|
MYOT
|
myotilin
|
|
NEB
|
nebulin
|
|
NLRP12
|
NLR family, pyrin domain containing 12
|
|
NPHS1
|
nephrosis 1, congenital, Finnish type (nephrin)
|
|
NPHS2
|
nephrosis 2, idiopathic, steroid-resistant (podocin)
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
OCRL
|
oculocerebrorenal syndrome of Lowe
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGM1
|
phosphoglucomutase 1
|
|
PHKA1
|
phosphorylase kinase, alpha 1 (muscle)
|
|
PLA2G6
|
phospholipase A2, group VI (cytosolic, calcium-independent)
|
|
PLCE1
|
phospholipase C, epsilon 1
|
|
PLEC
|
plectin
|
|
PLEKHG5
|
pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
PMM2
|
phosphomannomutase 2
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POLG2
|
polymerase (DNA directed), gamma 2, accessory subunit
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMK
|
protein-O-mannose kinase
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRF1
|
perforin 1 (pore forming protein)
|
|
PRSS1
|
protease, serine, 1 (trypsin 1)
|
|
PTPRO
|
protein tyrosine phosphatase, receptor type, O
|
|
PTRF
|
polymerase I and transcript release factor
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAG1
|
recombination activating gene 1
|
|
RAG2
|
recombination activating gene 2
|
|
RBCK1
|
RanBP-type and C3HC4-type zinc finger containing 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SAR1B
|
secretion associated, Ras related GTPase 1B
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SERPINA7
|
serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
|
|
SETX
|
senataxin
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCB
|
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
|
|
SGCG
|
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SLC16A1
|
solute carrier family 16 (monocarboxylate transporter), member 1
|
|
SLC25A20
|
solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
|
|
SMAD4
|
SMAD family member 4
|
|
STIM1
|
stromal interaction molecule 1
|
|
SUCLA2
|
succinate-CoA ligase, ADP-forming, beta subunit
|
|
SYNE1
|
spectrin repeat containing, nuclear envelope 1
|
|
SYNE2
|
spectrin repeat containing, nuclear envelope 2
|
|
TCAP
|
titin-cap
|
|
TF
|
transferrin
|
|
TFG
|
TRK-fused gene
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
TMEM165
|
transmembrane protein 165
|
|
TMPRSS15
|
transmembrane protease, serine 15
|
|
TRAPPC11
|
trafficking protein particle complex 11
|
|
TRIM32
|
tripartite motif containing 32
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
TSFM
|
Ts translation elongation factor, mitochondrial
|
|
TTC37
|
tetratricopeptide repeat domain 37
|
|
TTN
|
titin
|
|
UBR1
|
ubiquitin protein ligase E3 component n-recognin 1
|
|
VCP
|
valosin containing protein
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
XK
|
X-linked Kx blood group
|
