Source Id |
NCBI (Entrez) Gene Id |
Gene Symbol |
Gene Description |
10020 |
10020 |
GNE |
glucosamine (UDP-N-acetyl)-2-epimeras... |
100288687 |
100288687 |
DUX4 |
double homeobox 4 [Source:HGNC Symbol... |
10049 |
10049 |
DNAJB6 |
DnaJ heat shock protein family (Hsp40... |
10324 |
10324 |
KLHL41 |
kelch like family member 41 [Source:H... |
10585 |
10585 |
POMT1 |
protein O-mannosyltransferase 1 [Sour... |
1073 |
1073 |
CFL2 |
cofilin 2 [Source:HGNC Symbol;Acc:HGN... |
1103 |
1103 |
CHAT |
choline O-acetyltransferase [Source:H... |
11149 |
11149 |
BVES |
blood vessel epicardial substance [So... |
11155 |
11155 |
LDB3 |
LIM domain binding 3 [Source:HGNC Sym... |
11232 |
11232 |
POLG2 |
DNA polymerase gamma 2, accessory sub... |
112812 |
112812 |
FDX2 |
ferredoxin 2 [Source:HGNC Symbol;Acc:... |
1134 |
1134 |
CHRNA1 |
cholinergic receptor nicotinic alpha ... |
1140 |
1140 |
CHRNB1 |
cholinergic receptor nicotinic beta 1... |
1144 |
1144 |
CHRND |
cholinergic receptor nicotinic delta ... |
1145 |
1145 |
CHRNE |
cholinergic receptor nicotinic epsilo... |
127833 |
127833 |
SYT2 |
synaptotagmin 2 [Source:HGNC Symbol;A... |
1291 |
1291 |
COL6A1 |
collagen type VI alpha 1 chain [Sourc... |
1292 |
1292 |
COL6A2 |
collagen type VI alpha 2 chain [Sourc... |
1293 |
1293 |
COL6A3 |
collagen type VI alpha 3 chain [Sourc... |
1303 |
1303 |
COL12A1 |
collagen type XII alpha 1 chain [Sour... |
1305 |
1305 |
COL13A1 |
collagen type XIII alpha 1 chain [Sou... |
1410 |
1410 |
CRYAB |
crystallin alpha B [Source:HGNC Symbo... |
1605 |
1605 |
DAG1 |
dystroglycan 1 [Source:HGNC Symbol;Ac... |
1716 |
1716 |
DGUOK |
deoxyguanosine kinase [Source:HGNC Sy... |
1763 |
1763 |
DNA2 |
DNA replication helicase/nuclease 2 [... |
1789 |
1789 |
DNMT3B |
DNA methyltransferase 3 beta [Source:... |
1798 |
1798 |
DPAGT1 |
dolichyl-phosphate N-acetylglucosamin... |
199857 |
199857 |
ALG14 |
ALG14 UDP-N-acetylglucosaminyltransfe... |
203859 |
203859 |
ANO5 |
anoctamin 5 [Source:HGNC Symbol;Acc:H... |
221264 |
221264 |
AK9 |
adenylate kinase 9 [Source:HGNC Symbo... |
22880 |
22880 |
MORC2 |
MORC family CW-type zinc finger 2 [So... |
22947 |
22947 |
DUX4L1 |
double homeobox 4 like 1 (pseudogene)... |
22954 |
22954 |
TRIM32 |
tripartite motif containing 32 [Sourc... |
2318 |
2318 |
FLNC |
filamin C [Source:HGNC Symbol;Acc:HGN... |
23299 |
23299 |
BICD2 |
BICD cargo adaptor 2 [Source:HGNC Sym... |
23347 |
23347 |
SMCHD1 |
structural maintenance of chromosomes... |
23534 |
23534 |
TNPO3 |
transportin 3 [Source:HGNC Symbol;Acc... |
2483 |
2483 |
FRG1 |
FSHD region gene 1 [Source:HGNC Symbo... |
2581 |
2581 |
GALC |
galactosylceramidase [Source:HGNC Sym... |
2673 |
2673 |
GFPT1 |
glutamine--fructose-6-phosphate trans... |
285489 |
285489 |
DOK7 |
docking protein 7 [Source:HGNC Symbol... |
291 |
291 |
SLC25A4 |
solute carrier family 25 member 4 [So... |
2992 |
2992 |
GYG1 |
glycogenin 1 [Source:HGNC Symbol;Acc:... |
29925 |
29925 |
GMPPB |
GDP-mannose pyrophosphorylase B [Sour... |
29954 |
29954 |
POMT2 |
protein O-mannosyltransferase 2 [Sour... |
3679 |
3679 |
ITGA7 |
integrin subunit alpha 7 [Source:HGNC... |
375790 |
375790 |
AGRN |
agrin [Source:HGNC Symbol;Acc:HGNC:329] |
4000 |
4000 |
LMNA |
lamin A/C [Source:HGNC Symbol;Acc:HGN... |
4038 |
4038 |
LRP4 |
LDL receptor related protein 4 [Sourc... |
4507 |
4507 |
MTAP |
methylthioadenosine phosphorylase [So... |
4556 |
4556 |
MT-TE |
mitochondrially encoded tRNA-Glu (GAA... |
4593 |
4593 |
MUSK |
muscle associated receptor tyrosine k... |
4625 |
4625 |
MYH7 |
myosin heavy chain 7 [Source:HGNC Sym... |
4633 |
4633 |
MYL2 |
myosin light chain 2 [Source:HGNC Sym... |
4649 |
4649 |
MYO9A |
myosin IXA [Source:HGNC Symbol;Acc:HG... |
4703 |
4703 |
NEB |
nebulin [Source:HGNC Symbol;Acc:HGNC:... |
4976 |
4976 |
OPA1 |
OPA1 mitochondrial dynamin like GTPas... |
50484 |
50484 |
RRM2B |
ribonucleotide reductase regulatory T... |
51099 |
51099 |
ABHD5 |
abhydrolase domain containing 5, lyso... |
51776 |
51776 |
MAP3K20 |
mitogen-activated protein kinase kina... |
5255 |
5255 |
PHKA1 |
phosphorylase kinase regulatory subun... |
5257 |
5257 |
PHKB |
phosphorylase kinase regulatory subun... |
5339 |
5339 |
PLEC |
plectin [Source:HGNC Symbol;Acc:HGNC:... |
5428 |
5428 |
POLG |
DNA polymerase gamma, catalytic subun... |
54332 |
54332 |
GDAP1 |
ganglioside induced differentiation a... |
54344 |
54344 |
DPM3 |
dolichyl-phosphate mannosyltransferas... |
55791 |
55791 |
LRIF1 |
ligand dependent nuclear receptor int... |
56203 |
56203 |
LMOD3 |
leiomodin 3 [Source:HGNC Symbol;Acc:H... |
5660 |
5660 |
PSAP |
prosaposin [Source:HGNC Symbol;Acc:HG... |
56652 |
56652 |
TWNK |
twinkle mtDNA helicase [Source:HGNC S... |
57104 |
57104 |
PNPLA2 |
patatin like phospholipase domain con... |
57190 |
57190 |
SELENON |
selenoprotein N [Source:HGNC Symbol;A... |
58 |
58 |
ACTA1 |
actin alpha 1, skeletal muscle [Sourc... |
5913 |
5913 |
RAPSN |
receptor associated protein of the sy... |
60482 |
60482 |
SLC5A7 |
solute carrier family 5 member 7 [Sou... |
6261 |
6261 |
RYR1 |
ryanodine receptor 1 [Source:HGNC Sym... |
6329 |
6329 |
SCN4A |
sodium voltage-gated channel alpha su... |
6442 |
6442 |
SGCA |
sarcoglycan alpha [Source:HGNC Symbol... |
6443 |
6443 |
SGCB |
sarcoglycan beta [Source:HGNC Symbol;... |
6572 |
6572 |
SLC18A3 |
solute carrier family 18 member A3 [S... |
6576 |
6576 |
SLC25A1 |
solute carrier family 25 member 1 [So... |
6606 |
6606 |
SMN1 |
survival of motor neuron 1, telomeric... |
6607 |
6607 |
SMN2 |
survival of motor neuron 2, centromer... |
6616 |
6616 |
SNAP25 |
synaptosome associated protein 25 [So... |
6843 |
6843 |
VAMP1 |
vesicle associated membrane protein 1... |
7138 |
7138 |
TNNT1 |
troponin T1, slow skeletal type [Sour... |
7169 |
7169 |
TPM2 |
tropomyosin 2 [Source:HGNC Symbol;Acc... |
7170 |
7170 |
TPM3 |
tropomyosin 3 [Source:HGNC Symbol;Acc... |
7273 |
7273 |
TTN |
titin [Source:HGNC Symbol;Acc:HGNC:12... |
729359 |
729359 |
PLIN4 |
perilipin 4 [Source:HGNC Symbol;Acc:H... |
729920 |
729920 |
CRPPA |
CDP-L-ribitol pyrophosphorylase A [So... |
7415 |
7415 |
VCP |
valosin containing protein [Source:HG... |
79147 |
79147 |
FKRP |
fukutin related protein [Source:HGNC ... |
8106 |
8106 |
PABPN1 |
poly(A) binding protein nuclear 1 [So... |
8291 |
8291 |
DYSF |
dysferlin [Source:HGNC Symbol;Acc:HGN... |
84197 |
84197 |
POMK |
protein O-mannose kinase [Source:HGNC... |
85365 |
85365 |
ALG2 |
ALG2 alpha-1,3/1,6-mannosyltransferas... |
9200 |
9200 |
HACD1 |
3-hydroxyacyl-CoA dehydratase 1 [Sour... |
9215 |
9215 |
LARGE1 |
LARGE xylosyl- and glucuronyltransfer... |
9499 |
9499 |
MYOT |
myotilin [Source:HGNC Symbol;Acc:HGNC... |
9782 |
9782 |
MATR3 |
matrin 3 [Source:HGNC Symbol;Acc:HGNC... |
9987 |
9987 |
HNRNPDL |
heterogeneous nuclear ribonucleoprote... |