TCMBANKGE011020 |
FHL1 |
FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT; RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA |
four and a half LIM domains 1 |
TCMBANKGE005115 |
FIG4 |
ALS11; BTOP; CMT4J; KIAA0274; SAC3; YVS; dJ249I4.1 |
FIG4 phosphoinositide 5-phosphatase |
TCMBANKGE003513 |
GFPT1 |
CMS12; CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m; GFPT; GFPT1L; MSLG |
glutamine--fructose-6-phosphate transaminase 1 |
TCMBANKGE005456 |
COL6A3 |
BTHLM1; DYT27; UCMD1 |
collagen type VI alpha 3 chain |
TCMBANKGE002758 |
HSPB8 |
CMT2L; DHMN2; E2IG1; H11; HMN2; HMN2A; HSP22 |
heat shock protein family B (small) member 8 |
TCMBANKGE000430 |
LRRK2 |
AURA17; DARDARIN; PARK8; RIPK7; ROCO2 |
leucine rich repeat kinase 2 |
TCMBANKGE003153 |
DMD |
BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85 |
dystrophin |
TCMBANKGE013807 |
ATP6AP2 |
APT6M8-9; ATP6IP2; ATP6M8-9; CDG2R; ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR; XMRE; XPDS |
ATPase H+ transporting accessory protein 2 |
TCMBANKGE010440 |
ALG14 |
CMS15 |
ALG14 UDP-N-acetylglucosaminyltransferase subunit |
TCMBANKGE002337 |
TPM2 |
AMCD1; DA1; DA2B; DA2B4; HEL-S-273; NEM4; TMSB |
tropomyosin 2 |
TCMBANKGE000572 |
POLG |
MDP1; MIRAS; MTDPS4A; MTDPS4B; PEO; POLG1; POLGA; SANDO; SCAE |
DNA polymerase gamma, catalytic subunit |
TCMBANKGE013383 |
VCP |
CDC48; TERA; p97 |
valosin containing protein |
TCMBANKGE003341 |
VPS35 |
MEM3; PARK17 |
VPS35 retromer complex component |
TCMBANKGE003479 |
NEFH |
CMT2CC; NFH |
neurofilament heavy |
TCMBANKGE007359 |
MTPAP |
PAPD1; SPAX4; TENT6 |
mitochondrial poly(A) polymerase |
TCMBANKGE001216 |
PMP2 |
CMT1G; FABP8; M-FABP; MP2; P2 |
peripheral myelin protein 2 |
TCMBANKGE006778 |
PLEC |
EBS1; EBSMD; EBSND; EBSO; EBSOG; EBSPA; HD1; LGMD2Q; LGMDR17; PCN; PLEC1; PLEC1b; PLTN |
plectin |
TCMBANKGE009255 |
COQ2 |
CL640; COQ10D1; MSA1; PHB:PPT |
coenzyme Q2, polyprenyltransferase |
TCMBANKGE002558 |
COL12A1 |
BA209D8.1; BTHLM2; COL12A1L; DJ234P15.1; EDSMYP; UCMD2 |
collagen type XII alpha 1 chain |
TCMBANKGE004358 |
GJB1 |
CMTX; CMTX1; CX32 |
gap junction protein beta 1 |
TCMBANKGE000032 |
ARHGEF2 |
GEF; GEF-H1; GEFH1; LFP40; Lfc; NEDMHM; P40 |
Rho/Rac guanine nucleotide exchange factor 2 |
TCMBANKGE009157 |
ATL1 |
AD-FSP; FSP1; GBP3; HSN1D; SPG3; SPG3A; atlastin1 |
atlastin GTPase 1 |
TCMBANKGE004056 |
PANK2 |
C20orf48; HARP; HSS; NBIA1; PKAN |
pantothenate kinase 2 |
TCMBANKGE004751 |
GPHN |
GEPH; GPH; GPHRYN; HKPX1; MOCODC |
gephyrin |
TCMBANKGE009143 |
GLRA1 |
HKPX1; STHE |
glycine receptor alpha 1 |
TCMBANKGE001690 |
HADHB |
ECHB; MSTP029; MTPB; TP-BETA |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta |
TCMBANKGE004741 |
TPM3 |
CAPM1; CFTD; HEL-189; HEL-S-82p; NEM1; OK/SW-cl.5; TM-5; TM3; TM30; TM30nm; TM5; TPM3nu; TPMsk3; TRK; hscp30 |
tropomyosin 3 |
TCMBANKGE006909 |
GRM1 |
GPRC1A; MGLU1; MGLUR1; PPP1R85; SCA44; SCAR13 |
glutamate metabotropic receptor 1 |
TCMBANKGE008261 |
PSAP |
GLBA; SAP1; SAP2 |
prosaposin |
TCMBANKGE000127 |
MFN2 |
CMT2A; CMT2A2; CMT2A2A; CMT2A2B; CPRP1; HMSN6A; HSG; MARF |
mitofusin 2 |
TCMBANKGE001676 |
GMPPB |
LGMDR19; MDDGA14; MDDGB14; MDDGC14 |
GDP-mannose pyrophosphorylase B |
TCMBANKGE005940 |
EIF4G1 |
EIF-4G1; EIF4F; EIF4G; EIF4GI; P220; PARK18 |
eukaryotic translation initiation factor 4 gamma 1 |
TCMBANKGE000017 |
MAPT |
DDPAC; FTDP-17; MAPTL; MSTD; MTBT1; MTBT2; PPND; PPP1R103; TAU |
microtubule associated protein tau |
TCMBANKGE012999 |
CHP1 |
CHP; SLC9A1BP; SPAX9; Sid470p; p22; p24 |
calcineurin like EF-hand protein 1 |
TCMBANKGE001922 |
FA2H |
FAAH; FAH1; FAXDC1; SCS7; SPG35 |
fatty acid 2-hydroxylase |
TCMBANKGE001174 |
COLQ |
CMS5; EAD |
collagen like tail subunit of asymmetric acetylcholinesterase |
TCMBANKGE006116 |
POLG2 |
HP55; MTDPS16; MTPOLB; PEOA4; POLB; POLG-BETA; POLGB |
DNA polymerase gamma 2, accessory subunit |
TCMBANKGE004790 |
SDHAF1 |
LYRM8 |
succinate dehydrogenase complex assembly factor 1 |
TCMBANKGE000003 |
ASAH1 |
AC; ACDase; ASAH; PHP; PHP32; SMAPME |
N-acylsphingosine amidohydrolase 1 |
TCMBANKGE010903 |
KIF1C |
LTXS1; SATX2; SAX2; SPAX2; SPG58 |
kinesin family member 1C |
TCMBANKGE002136 |
GBA |
GBA1; GCB; GLUC |
glucosylceramidase beta |
TCMBANKGE007911 |
HADHA |
ECHA; GBP; HADH; LCEH; LCHAD; MTPA; TP-ALPHA |
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha |
TCMBANKGE009953 |
NEB |
NEB177D; NEM2 |
nebulin |
TCMBANKGE003709 |
ALG2 |
CDG1I; CDGIi; CMS14; CMSTA3; NET38; hALPG2 |
ALG2 alpha-1,3/1,6-mannosyltransferase |
TCMBANKGE007388 |
CDK13 |
CDC2L; CDC2L5; CHDFIDD; CHED; hCDK13 |
cyclin dependent kinase 13 |
TCMBANKGE003496 |
ATP6 |
ATPase6; MTATP6 |
ATP synthase F0 subunit 6 |
TCMBANKGE002693 |
SDHA |
CMD1GG; FP; PGL5; SDH1; SDH2; SDHF |
succinate dehydrogenase complex flavoprotein subunit A |
TCMBANKGE002680 |
SCO2 |
CEMCOX1; ECGF1; Gliostatin; MYP6; PD-ECGF; SCO1L; TP; TYMP; TdRPase |
synthesis of cytochrome C oxidase 2 |
TCMBANKGE001654 |
SGCA |
50DAG; ADL; DAG2; DMDA2; LGMD2D; LGMDR3; SCARMD1; adhalin |
sarcoglycan alpha |
TCMBANKGE000030 |
FKRP |
FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5; MDDGB5; MDDGC5 |
fukutin related protein |
TCMBANKGE012423 |
PRNP |
ASCR; AltPrP; CD230; CJD; GSS; KURU; PRIP; PrP; PrP27-30; PrP33-35C; PrPc; p27-30 |
prion protein |
TCMBANKGE003317 |
DPAGT1 |
ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2; D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
TCMBANKGE014472 |
B4GALNT1 |
GALGT; GALNACT; GalNAc-T; SPG26 |
beta-1,4-N-acetyl-galactosaminyltransferase 1 |
TCMBANKGE014980 |
COL6A2 |
BTHLM1; PP3610; UCMD1 |
collagen type VI alpha 2 chain |
TCMBANKGE000637 |
SDHB |
CWS2; IP; PGL4; SDH; SDH1; SDH2; SDHIP |
succinate dehydrogenase complex iron sulfur subunit B |
TCMBANKGE010909 |
GIGYF2 |
GYF2; PARK11; PERQ2; PERQ3; TNRC15 |
GRB10 interacting GYF protein 2 |
TCMBANKGE013308 |
SDHD |
CBT1; CII-4; CWS3; PGL; PGL1; QPs3; SDH4; cybS |
succinate dehydrogenase complex subunit D |
TCMBANKGE003588 |
RRM2B |
MTDPS8A; MTDPS8B; P53R2 |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
TCMBANKGE008709 |
COL6A1 |
BTHLM1; OPLL; UCHMD1 |
collagen type VI alpha 1 chain |
TCMBANKGE000551 |
NOL3 |
ARC; FCM; MYOCL1; MYP; NOP; NOP30 |
nucleolar protein 3 |
TCMBANKGE005409 |
TTN |
CMD1G; CMH9; CMPD4; EOMFC; HMERF; LGMD2J; LGMDR10; MYLK5; SALMY; TMD |
titin |
TCMBANKGE014671 |
ADAR |
ADAR1; AGS6; DRADA; DSH; DSRAD; G1P1; IFI-4; IFI4; K88DSRBP; P136 |
adenosine deaminase RNA specific |
TCMBANKGE013514 |
ACTA1 |
ACTA; ASMA; CFTD; CFTD1; CFTDM; MPFD; NEM1; NEM2; NEM3; SHPM |
actin alpha 1, skeletal muscle |
TCMBANKGE012504 |
STIM1 |
D11S4896E; GOK; IMD10; STRMK; TAM; TAM1 |
stromal interaction molecule 1 |
TCMBANKGE004587 |
SLC25A1 |
CMS23; CTP; D2L2AD; SEA; SLC20A3 |
solute carrier family 25 member 1 |
TCMBANKGE012046 |
ARSA |
ASA; MLD |
arylsulfatase A |
TCMBANKGE001001 |
SNCA |
NACP; PARK1; PARK4; PD1 |
synuclein alpha |
TCMBANKGE013956 |
DYNC1H1 |
CMT2O; DHC1; DHC1a; DNCH1; DNCL; DNECL; DYHC; Dnchc1; HL-3; SMALED1; p22 |
dynein cytoplasmic 1 heavy chain 1 |
TCMBANKGE014527 |
SLC25A4 |
AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A; PEO2; PEO3; PEOA2; T1 |
solute carrier family 25 member 4 |
TCMBANKGE006108 |
HINT1 |
HINT; NMAN; PKCI-1; PRKCNH1 |
histidine triad nucleotide binding protein 1 |
TCMBANKGE014323 |
SCYL1 |
GKLP; HT019; NKTL; NTKL; P105; SCAR21; TAPK; TEIF; TRAP |
SCY1 like pseudokinase 1 |
TCMBANKGE008723 |
PDE10A |
ADSD2; HSPDE10A; IOLOD; LINC00473; PDE10A19 |
phosphodiesterase 10A |
TCMBANKGE000268 |
NUP62 |
IBSN; SNDI; p62 |
nucleoporin 62 |
TCMBANKGE012172 |
LAMB2 |
LAMS; NPHS5 |
laminin subunit beta 2 |
TCMBANKGE008760 |
TAF1 |
BA2R; CCG1; CCGS; DYT3; DYT3/TAF1; KAT4; MRXS33; N-TAF1; NSCL2; OF; P250; TAF(II)250; TAF2A; TAFII-250; TAFII250; XDP |
TATA-box binding protein associated factor 1 |
TCMBANKGE011640 |
SGCG |
35DAG; A4; DAGA4; DMDA; DMDA1; LGMD2C; LGMDR5; MAM; SCARMD2; SCG3; gamma-SG |
sarcoglycan gamma |