Source Id |
NCBI (Entrez) Gene Id |
Gene Symbol |
Gene Description |
| 100288687 |
100288687 |
DUX4 |
double homeobox 4 [Source:HGNC Symbo... |
| 10159 |
10159 |
ATP6AP2 |
ATPase H+ transporting accessory pro... |
| 10243 |
10243 |
GPHN |
gephyrin [Source:HGNC Symbol;Acc:HGN... |
| 103 |
103 |
ADAR |
adenosine deaminase RNA specific [So... |
| 10367 |
10367 |
MICU1 |
mitochondrial calcium uptake 1 [Sour... |
| 10397 |
10397 |
NDRG1 |
N-myc downstream regulated 1 [Source... |
| 10558 |
10558 |
SPTLC1 |
serine palmitoyltransferase long cha... |
| 10585 |
10585 |
POMT1 |
protein O-mannosyltransferase 1 [Sou... |
| 1073 |
1073 |
CFL2 |
cofilin 2 [Source:HGNC Symbol;Acc:HG... |
| 10749 |
10749 |
KIF1C |
kinesin family member 1C [Source:HGN... |
| 10846 |
10846 |
PDE10A |
phosphodiesterase 10A [Source:HGNC S... |
| 111 |
111 |
ADCY5 |
adenylate cyclase 5 [Source:HGNC Sym... |
| 11232 |
11232 |
POLG2 |
DNA polymerase gamma 2, accessory su... |
| 11261 |
11261 |
CHP1 |
calcineurin like EF-hand protein 1 [... |
| 116228 |
116228 |
COX20 |
cytochrome c oxidase assembly factor... |
| 120892 |
120892 |
LRRK2 |
leucine rich repeat kinase 2 [Source... |
| 122622 |
122622 |
ADSS1 |
adenylosuccinate synthase 1 [Source:... |
| 124093 |
124093 |
CCDC78 |
coiled-coil domain containing 78 [So... |
| 1291 |
1291 |
COL6A1 |
collagen type VI alpha 1 chain [Sour... |
| 1292 |
1292 |
COL6A2 |
collagen type VI alpha 2 chain [Sour... |
| 1293 |
1293 |
COL6A3 |
collagen type VI alpha 3 chain [Sour... |
| 1303 |
1303 |
COL12A1 |
collagen type XII alpha 1 chain [Sou... |
| 1600 |
1600 |
DAB1 |
DAB adaptor protein 1 [Source:HGNC S... |
| 1778 |
1778 |
DYNC1H1 |
dynein cytoplasmic 1 heavy chain 1 [... |
| 1789 |
1789 |
DNMT3B |
DNA methyltransferase 3 beta [Source... |
| 1798 |
1798 |
DPAGT1 |
dolichyl-phosphate N-acetylglucosami... |
| 1981 |
1981 |
EIF4G1 |
eukaryotic translation initiation fa... |
| 199857 |
199857 |
ALG14 |
ALG14 UDP-N-acetylglucosaminyltransf... |
| 2055 |
2055 |
CLN8 |
CLN8 transmembrane ER and ERGIC prot... |
| 2218 |
2218 |
FKTN |
fukutin [Source:HGNC Symbol;Acc:HGNC... |
| 2273 |
2273 |
FHL1 |
four and a half LIM domains 1 [Sourc... |
| 22947 |
22947 |
DUX4L1 |
double homeobox 4 like 1 (pseudogene... |
| 23317 |
23317 |
DNAJC13 |
DnaJ heat shock protein family (Hsp4... |
| 23347 |
23347 |
SMCHD1 |
structural maintenance of chromosome... |
| 23479 |
23479 |
ISCU |
iron-sulfur cluster assembly enzyme ... |
| 23533 |
23533 |
PIK3R5 |
phosphoinositide-3-kinase regulatory... |
| 23636 |
23636 |
NUP62 |
nucleoporin 62 [Source:HGNC Symbol;A... |
| 2483 |
2483 |
FRG1 |
FSHD region gene 1 [Source:HGNC Symb... |
| 2581 |
2581 |
GALC |
galactosylceramidase [Source:HGNC Sy... |
| 2583 |
2583 |
B4GALNT1 |
beta-1,4-N-acetyl-galactosaminyltran... |
| 26058 |
26058 |
GIGYF2 |
GRB10 interacting GYF protein 2 [Sou... |
| 2629 |
2629 |
GBA1 |
glucosylceramidase beta 1 [Source:HG... |
| 26580 |
26580 |
BSCL2 |
BSCL2 lipid droplet biogenesis assoc... |
| 267010 |
267010 |
RNU12 |
RNA, U12 small nuclear [Source:HGNC ... |
| 2673 |
2673 |
GFPT1 |
glutamine--fructose-6-phosphate tran... |
| 2705 |
2705 |
GJB1 |
gap junction protein beta 1 [Source:... |
| 27235 |
27235 |
COQ2 |
coenzyme Q2, polyprenyltransferase [... |
| 27247 |
27247 |
NFU1 |
NFU1 iron-sulfur cluster scaffold [S... |
| 2741 |
2741 |
GLRA1 |
glycine receptor alpha 1 [Source:HGN... |
| 284439 |
284439 |
SLC25A42 |
solute carrier family 25 member 42 [... |
| 2903 |
2903 |
GRIN2A |
glutamate ionotropic receptor NMDA t... |
| 291 |
291 |
SLC25A4 |
solute carrier family 25 member 4 [S... |
| 2911 |
2911 |
GRM1 |
glutamate metabotropic receptor 1 [S... |
| 29925 |
29925 |
GMPPB |
GDP-mannose pyrophosphorylase B [Sou... |
| 3030 |
3030 |
HADHA |
hydroxyacyl-CoA dehydrogenase trifun... |
| 3032 |
3032 |
HADHB |
hydroxyacyl-CoA dehydrogenase trifun... |
| 3094 |
3094 |
HINT1 |
histidine triad nucleotide binding p... |
| 318 |
318 |
NUDT2 |
nudix hydrolase 2 [Source:HGNC Symbo... |
| 383 |
383 |
ARG1 |
arginase 1 [Source:HGNC Symbol;Acc:H... |
| 3913 |
3913 |
LAMB2 |
laminin subunit beta 2 [Source:HGNC ... |
| 4000 |
4000 |
LMNA |
lamin A/C [Source:HGNC Symbol;Acc:HG... |
| 410 |
410 |
ARSA |
arylsulfatase A [Source:HGNC Symbol;... |
| 4137 |
4137 |
MAPT |
microtubule associated protein tau [... |
| 427 |
427 |
ASAH1 |
N-acylsphingosine amidohydrolase 1 [... |
| 4359 |
4359 |
MPZ |
myelin protein zero [Source:HGNC Sym... |
| 4361 |
4361 |
MRE11 |
MRE11 homolog, double strand break r... |
| 4508 |
4508 |
MT-ATP6 |
mitochondrially encoded ATP synthase... |
| 4556 |
4556 |
MT-TE |
mitochondrially encoded tRNA-Glu (GA... |
| 4694 |
4694 |
NDUFA1 |
NADH:ubiquinone oxidoreductase subun... |
| 4703 |
4703 |
NEB |
nebulin [Source:HGNC Symbol;Acc:HGNC... |
| 4744 |
4744 |
NEFH |
neurofilament heavy chain [Source:HG... |
| 4747 |
4747 |
NEFL |
neurofilament light chain [Source:HG... |
| 492 |
492 |
ATP2B3 |
ATPase plasma membrane Ca2+ transpor... |
| 4976 |
4976 |
OPA1 |
OPA1 mitochondrial dynamin like GTPa... |
| 50484 |
50484 |
RRM2B |
ribonucleotide reductase regulatory ... |
| 51062 |
51062 |
ATL1 |
atlastin GTPase 1 [Source:HGNC Symbo... |
| 5189 |
5189 |
PEX1 |
peroxisomal biogenesis factor 1 [Sou... |
| 5297 |
5297 |
PI4KA |
phosphatidylinositol 4-kinase alpha ... |
| 53371 |
53371 |
NUP54 |
nucleoporin 54 [Source:HGNC Symbol;A... |
| 5339 |
5339 |
PLEC |
plectin [Source:HGNC Symbol;Acc:HGNC... |
| 5375 |
5375 |
PMP2 |
peripheral myelin protein 2 [Source:... |
| 5376 |
5376 |
PMP22 |
peripheral myelin protein 22 [Source... |
| 5428 |
5428 |
POLG |
DNA polymerase gamma, catalytic subu... |
| 54332 |
54332 |
GDAP1 |
ganglioside induced differentiation ... |
| 54463 |
54463 |
RETREG1 |
reticulophagy regulator 1 [Source:HG... |
| 54808 |
54808 |
DYM |
dymeclin [Source:HGNC Symbol;Acc:HGN... |
| 54834 |
54834 |
GDAP2 |
ganglioside induced differentiation ... |
| 55149 |
55149 |
MTPAP |
mitochondrial poly(A) polymerase [So... |
| 55187 |
55187 |
VPS13D |
vacuolar protein sorting 13 homolog ... |
| 55280 |
55280 |
CWF19L1 |
CWF19 like cell cycle control factor... |
| 55703 |
55703 |
POLR3B |
RNA polymerase III subunit B [Source... |
| 55737 |
55737 |
VPS35 |
VPS35 retromer complex component [So... |
| 56006 |
56006 |
SMG9 |
SMG9 nonsense mediated mRNA decay fa... |
| 5621 |
5621 |
PRNP |
prion protein (Kanno blood group) [S... |
| 5660 |
5660 |
PSAP |
prosaposin [Source:HGNC Symbol;Acc:H... |
| 56652 |
56652 |
TWNK |
twinkle mtDNA helicase [Source:HGNC ... |
| 57410 |
57410 |
SCYL1 |
SCY1 like pseudokinase 1 [Source:HGN... |
| 58 |
58 |
ACTA1 |
actin alpha 1, skeletal muscle [Sour... |
| 6134 |
6134 |
RPL10 |
ribosomal protein L10 [Source:HGNC S... |
| 6253 |
6253 |
RTN2 |
reticulon 2 [Source:HGNC Symbol;Acc:... |
| 6263 |
6263 |
RYR3 |
ryanodine receptor 3 [Source:HGNC Sy... |
| 6329 |
6329 |
SCN4A |
sodium voltage-gated channel alpha s... |
| 6389 |
6389 |
SDHA |
succinate dehydrogenase complex flav... |
| 6390 |
6390 |
SDHB |
succinate dehydrogenase complex iron... |
| 6392 |
6392 |
SDHD |
succinate dehydrogenase complex subu... |
| 644096 |
644096 |
SDHAF1 |
succinate dehydrogenase complex asse... |
| 6442 |
6442 |
SGCA |
sarcoglycan alpha [Source:HGNC Symbo... |
| 6445 |
6445 |
SGCG |
sarcoglycan gamma [Source:HGNC Symbo... |
| 64856 |
64856 |
VWA1 |
von Willebrand factor A domain conta... |
| 65055 |
65055 |
REEP1 |
receptor accessory protein 1 [Source... |
| 6576 |
6576 |
SLC25A1 |
solute carrier family 25 member 1 [S... |
| 6622 |
6622 |
SNCA |
synuclein alpha [Source:HGNC Symbol;... |
| 6697 |
6697 |
SPR |
sepiapterin reductase [Source:HGNC S... |
| 6709 |
6709 |
SPTAN1 |
spectrin alpha, non-erythrocytic 1 [... |
| 6786 |
6786 |
STIM1 |
stromal interaction molecule 1 [Sour... |
| 6872 |
6872 |
TAF1 |
TATA-box binding protein associated ... |
| 7080 |
7080 |
NKX2-1 |
NK2 homeobox 1 [Source:HGNC Symbol;A... |
| 7169 |
7169 |
TPM2 |
tropomyosin 2 [Source:HGNC Symbol;Ac... |
| 7170 |
7170 |
TPM3 |
tropomyosin 3 [Source:HGNC Symbol;Ac... |
| 7273 |
7273 |
TTN |
titin [Source:HGNC Symbol;Acc:HGNC:1... |
| 729920 |
729920 |
CRPPA |
CDP-L-ribitol pyrophosphorylase A [S... |
| 7415 |
7415 |
VCP |
valosin containing protein [Source:H... |
| 773 |
773 |
CACNA1A |
calcium voltage-gated channel subuni... |
| 79147 |
79147 |
FKRP |
fukutin related protein [Source:HGNC... |
| 79152 |
79152 |
FA2H |
fatty acid 2-hydroxylase [Source:HGN... |
| 79628 |
79628 |
SH3TC2 |
SH3 domain and tetratricopeptide rep... |
| 79912 |
79912 |
PYROXD1 |
pyridine nucleotide-disulphide oxido... |
| 80025 |
80025 |
PANK2 |
pantothenate kinase 2 [Source:HGNC S... |
| 80704 |
80704 |
SLC19A3 |
solute carrier family 19 member 3 [S... |
| 81790 |
81790 |
RNF170 |
ring finger protein 170 [Source:HGNC... |
| 8292 |
8292 |
COLQ |
collagen like tail subunit of asymme... |
| 84665 |
84665 |
MYPN |
myopalladin [Source:HGNC Symbol;Acc:... |
| 84823 |
84823 |
LMNB2 |
lamin B2 [Source:HGNC Symbol;Acc:HGN... |
| 85365 |
85365 |
ALG2 |
ALG2 alpha-1,3/1,6-mannosyltransfera... |
| 8996 |
8996 |
NOL3 |
nucleolar protein 3 [Source:HGNC Sym... |
| 9181 |
9181 |
ARHGEF2 |
Rho/Rac guanine nucleotide exchange ... |
| 9409 |
9409 |
PEX16 |
peroxisomal biogenesis factor 16 [So... |
| 9570 |
9570 |
GOSR2 |
golgi SNAP receptor complex member 2... |
| 9896 |
9896 |
FIG4 |
FIG4 phosphoinositide 5-phosphatase ... |
| 9927 |
9927 |
MFN2 |
mitofusin 2 [Source:HGNC Symbol;Acc:... |
| 9990 |
9990 |
SLC12A6 |
solute carrier family 12 member 6 [S... |
| 9997 |
9997 |
SCO2 |
synthesis of cytochrome C oxidase 2 ... |