| Symbol |
Name |
|
ABCC9
|
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
|
|
ABHD5
|
abhydrolase domain containing 5
|
|
ACACA
|
acetyl-CoA carboxylase alpha
|
|
ACADS
|
acyl-CoA dehydrogenase, C-2 to C-3 short chain
|
|
ACTA1
|
actin, alpha 1, skeletal muscle
|
|
ACTC1
|
actin, alpha, cardiac muscle 1
|
|
ACTN2
|
actinin, alpha 2
|
|
AGK
|
acylglycerol kinase
|
|
AGL
|
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
|
|
AKT1
|
v-akt murine thymoma viral oncogene homolog 1
|
|
ALDOA
|
aldolase A, fructose-bisphosphate
|
|
ALPL
|
alkaline phosphatase, liver/bone/kidney
|
|
AMPD1
|
adenosine monophosphate deaminase 1
|
|
ANO5
|
anoctamin 5
|
|
ATP1A3
|
ATPase, Na+/K+ transporting, alpha 3 polypeptide
|
|
B3GALNT2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
B4GALT1
|
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BAZ1B
|
bromodomain adjacent to zinc finger domain, 1B
|
|
BIN1
|
bridging integrator 1
|
|
C10ORF2
|
chromosome 10 open reading frame 2
|
|
CACNA1S
|
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
CFL2
|
cofilin 2 (muscle)
|
|
CHKB
|
choline kinase beta
|
|
CISD2
|
CDGSH iron sulfur domain 2
|
|
CLIP2
|
CAP-GLY domain containing linker protein 2
|
|
COL12A1
|
collagen, type XII, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
COX1
|
|
|
COX2
|
|
|
COX3
|
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CRYAB
|
crystallin, alpha B
|
|
CSRP3
|
cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
CTNS
|
cystinosin, lysosomal cystine transporter
|
|
DES
|
desmin
|
|
DMD
|
dystrophin
|
|
DOLK
|
dolichol kinase
|
|
DSG2
|
desmoglein 2
|
|
DYSF
|
dysferlin
|
|
ELN
|
elastin
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
FHL1
|
four and a half LIM domains 1
|
|
FHL2
|
four and a half LIM domains 2
|
|
FKBP14
|
FK506 binding protein 14, 22 kDa
|
|
FKRP
|
fukutin related protein
|
|
FKTN
|
fukutin
|
|
FLNC
|
filamin C, gamma
|
|
GABRD
|
gamma-aminobutyric acid (GABA) A receptor, delta
|
|
GATAD1
|
GATA zinc finger domain containing 1
|
|
GCLC
|
glutamate-cysteine ligase, catalytic subunit
|
|
GFER
|
growth factor, augmenter of liver regeneration
|
|
GK
|
glycerol kinase
|
|
GMPPB
|
GDP-mannose pyrophosphorylase B
|
|
GNE
|
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
|
|
GTF2I
|
general transcription factor IIi
|
|
GTF2IRD1
|
GTF2I repeat domain containing 1
|
|
HACD1
|
3-hydroxyacyl-CoA dehydratase 1
|
|
HNRNPDL
|
heterogeneous nuclear ribonucleoprotein D-like
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
ISCU
|
iron-sulfur cluster assembly enzyme
|
|
ITGA7
|
integrin, alpha 7
|
|
KBTBD13
|
kelch repeat and BTB (POZ) domain containing 13
|
|
KCNAB2
|
potassium channel, voltage gated subfamily A regulatory beta subunit 2
|
|
LAMA4
|
laminin, alpha 4
|
|
LAMP2
|
lysosomal-associated membrane protein 2
|
|
LARGE
|
like-glycosyltransferase
|
|
LDB3
|
LIM domain binding 3
|
|
LIMK1
|
LIM domain kinase 1
|
|
LMNA
|
lamin A/C
|
|
LMNB2
|
lamin B2
|
|
MT-ND4
|
NADH dehydrogenase, subunit 4 (complex I)
|
|
MT-ND5
|
NADH dehydrogenase, subunit 5 (complex I)
|
|
MT-ND6
|
NADH dehydrogenase, subunit 6 (complex I)
|
|
MT-TF
|
tRNA
|
|
MT-TH
|
tRNA
|
|
MT-TK
|
tRNA
|
|
MT-TL1
|
tRNA
|
|
MT-TP
|
tRNA
|
|
MT-TQ
|
tRNA
|
|
MT-TS1
|
tRNA
|
|
MT-TS2
|
tRNA
|
|
MT-TW
|
tRNA
|
|
MTAP
|
methylthioadenosine phosphorylase
|
|
MYBPC3
|
myosin binding protein C, cardiac
|
|
MYH2
|
myosin, heavy chain 2, skeletal muscle, adult
|
|
MYH6
|
myosin, heavy chain 6, cardiac muscle, alpha
|
|
MYH7
|
myosin, heavy chain 7, cardiac muscle, beta
|
|
MYL2
|
myosin, light chain 2, regulatory, cardiac, slow
|
|
MYOT
|
myotilin
|
|
MYPN
|
myopalladin
|
|
ND1
|
|
|
NEB
|
nebulin
|
|
NEXN
|
nexilin (F actin binding protein)
|
|
OPA1
|
optic atrophy 1 (autosomal dominant)
|
|
ORAI1
|
ORAI calcium release-activated calcium modulator 1
|
|
PABPN1
|
poly(A) binding protein, nuclear 1
|
|
PANK2
|
pantothenate kinase 2
|
|
PDE11A
|
phosphodiesterase 11A
|
|
PDE8B
|
phosphodiesterase 8B
|
|
PGAM2
|
phosphoglycerate mutase 2 (muscle)
|
|
PGK1
|
phosphoglycerate kinase 1
|
|
PLEC
|
plectin
|
|
PLN
|
phospholamban
|
|
PNPLA2
|
patatin-like phospholipase domain containing 2
|
|
POLG
|
polymerase (DNA directed), gamma
|
|
POMGNT1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
POMT1
|
protein-O-mannosyltransferase 1
|
|
POMT2
|
protein-O-mannosyltransferase 2
|
|
PRDM16
|
PR domain containing 16
|
|
PRKAR1A
|
protein kinase, cAMP-dependent, regulatory, type I, alpha
|
|
PSEN1
|
presenilin 1
|
|
PSEN2
|
presenilin 2
|
|
PTEN
|
phosphatase and tensin homolog
|
|
PUS1
|
pseudouridylate synthase 1
|
|
PYGM
|
phosphorylase, glycogen, muscle
|
|
RAF1
|
Raf-1 proto-oncogene, serine/threonine kinase
|
|
RBM20
|
RNA binding motif protein 20
|
|
RET
|
ret proto-oncogene
|
|
RFC2
|
replication factor C (activator 1) 2, 40kDa
|
|
RMND1
|
required for meiotic nuclear division 1 homolog (S. cerevisiae)
|
|
RNR1
|
RNA, ribosomal cluster 1
|
|
RYR1
|
ryanodine receptor 1 (skeletal)
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SDHA
|
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
|
|
SEPN1
|
selenoprotein N, 1
|
|
SGCA
|
sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
|
|
SGCD
|
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
|
|
SIL1
|
SIL1 nucleotide exchange factor
|
|
SKI
|
SKI proto-oncogene
|
|
SLC22A5
|
solute carrier family 22 (organic cation/carnitine transporter), member 5
|
|
SLC25A4
|
solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
|
|
STIM1
|
stromal interaction molecule 1
|
|
TAZ
|
tafazzin
|
|
TBCE
|
tubulin folding cofactor E
|
|
TBL2
|
transducin (beta)-like 2
|
|
TCAP
|
titin-cap
|
|
TIA1
|
TIA1 cytotoxic granule-associated RNA binding protein
|
|
TK2
|
thymidine kinase 2, mitochondrial
|
|
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)
|
|
TNPO3
|
transportin 3
|
|
TPI1
|
triosephosphate isomerase 1
|
|
TPM1
|
tropomyosin 1 (alpha)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TPM3
|
tropomyosin 3
|
|
TRIM32
|
tripartite motif containing 32
|
|
TTN
|
titin
|
|
TXNRD2
|
thioredoxin reductase 2
|
|
UBA1
|
ubiquitin-like modifier activating enzyme 1
|
|
VCL
|
vinculin
|
|
VCP
|
valosin containing protein
|
|
VPS13A
|
vacuolar protein sorting 13 homolog A (S. cerevisiae)
|
|
WFS1
|
Wolfram syndrome 1 (wolframin)
|
|
XDH
|
xanthine dehydrogenase
|
|
YARS2
|
tyrosyl-tRNA synthetase 2, mitochondrial
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
