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疾病ID:TCMBANKDI007707
疾病名:Myasthenic Syndromes, Congenital
MeSH_Name:Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
HPO_Name:-
UMLS_Name:Disease or Syndrome
DO_Name:disease of anatomical entity
疾病类型:disease
DisGeNET_Link:C0751882
MeSH_Link:C16; C10
HPO_Link:-
UMLS_Link:T047
DO_Link:DOID:7
HERB_ID:HBDIS011497
疾病对应的植物
| ID | 拉丁名 | 药名 | 药用植物名 | 功能与主治 | 来源 | 药用部位 | 使用民族 |
|---|
疾病对应的化合物
| 化合物ID | 化合物名 | 别名 | 分子式 | 分子质量 | Smiles |
|---|
疾病对应的靶点
| 靶点ID | 基因名 | 基因别名 | 描述 |
|---|
| TCMBANKGE003513 | GFPT1 | CMS12; CMSTA1; GFA; GFAT; GFAT 1; GFAT1; GFAT1m; GFPT; GFPT1L; MSLG | glutamine--fructose-6-phosphate transaminase 1 |
| TCMBANKGE000070 | CAV1 | BSCL3; CGL3; LCCNS; MSTP085; PPH3; VIP21 | caveolin 1 |
| TCMBANKGE014015 | BCHE | BCHED; CHE1; CHE2; E1 | butyrylcholinesterase |
| TCMBANKGE005949 | EIF3K | ARG134; EIF3-p28; EIF3S12; HSPC029; M9; MSTP001; PLAC-24; PLAC24; PRO1474; PTD001 | eukaryotic translation initiation factor 3 subunit K |
| TCMBANKGE000576 | CHAT | CHOACTASE; CMS1A; CMS1A2; CMS6 | choline O-acetyltransferase |
| TCMBANKGE005892 | DNAJA3 | HCA57; TID1; hTID-1 | DnaJ heat shock protein family (Hsp40) member A3 |
| TCMBANKGE010440 | ALG14 | CMS15 | ALG14 UDP-N-acetylglucosaminyltransferase subunit |
| TCMBANKGE013383 | VCP | CDC48; TERA; p97 | valosin containing protein |
| TCMBANKGE008364 | SRSF1 | ASF; SF2; SF2p33; SFRS1; SRp30a | serine and arginine rich splicing factor 1 |
| TCMBANKGE006778 | PLEC | EBS1; EBSMD; EBSND; EBSO; EBSOG; EBSPA; HD1; LGMD2Q; LGMDR17; PCN; PLEC1; PLEC1b; PLTN | plectin |
| TCMBANKGE014012 | RPH3A | - | rabphilin 3A |
| TCMBANKGE013806 | LAMA5 | - | laminin subunit alpha 5 |
| TCMBANKGE009197 | DAP | - | death associated protein |
| TCMBANKGE014353 | ERBB3 | ErbB-3; FERLK; HER3; LCCS2; MDA-BF-1; c-erbB-3; c-erbB3; erbB3-S; p180-ErbB3; p45-sErbB3; p85-sErbB3 | erb-b2 receptor tyrosine kinase 3 |
| TCMBANKGE007004 | MYO9A | CMS24 | myosin IXA |
| TCMBANKGE000364 | SMN1 | BCD541; GEMIN1; SMA; SMA1; SMA2; SMA3; SMA4; SMA@; SMN; SMNT; T-BCD541; TDRD16A | survival of motor neuron 1, telomeric |
| 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 |
| TCMBANKGE004529 | SYT2 | CMS7; MYSPC; SytII | synaptotagmin 2 |
| TCMBANKGE010487 | CHRNA1 | ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS | cholinergic receptor nicotinic alpha 1 subunit |
| TCMBANKGE010457 | MUSK | CMS9; FADS; FADS1 | muscle associated receptor tyrosine kinase |
| TCMBANKGE001676 | GMPPB | LGMDR19; MDDGA14; MDDGB14; MDDGC14 | GDP-mannose pyrophosphorylase B |
| TCMBANKGE010862 | CHRND | ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS; SCCMS | cholinergic receptor nicotinic delta subunit |
| TCMBANKGE000577 | SLC18A3 | CMS21; VACHT | solute carrier family 18 member A3 |
| TCMBANKGE003553 | SNAP25 | CMS18; RIC-4; RIC4; SEC9; SNAP; SNAP-25; SUP; bA416N4.2; dJ1068F16.2 | synaptosome associated protein 25 |
| TCMBANKGE014376 | B3GAT1 | CD57; GLCATP; GLCUATP; HNK1; LEU7; NK-1; NK1 | beta-1,3-glucuronyltransferase 1 |
| TCMBANKGE001174 | COLQ | CMS5; EAD | collagen like tail subunit of asymmetric acetylcholinesterase |
| TCMBANKGE014340 | MACF1 | ABP620; ACF7; LIS9; MACF; OFC4 | microtubule actin crosslinking factor 1 |
| TCMBANKGE013406 | VAMP1 | CMS25; SPAX1; SYB1; VAMP-1 | vesicle associated membrane protein 1 |
| TCMBANKGE000766 | ACHE | ACEE; ARACHE; N-ACHE; YT | acetylcholinesterase (Cartwright blood group) |
| TCMBANKGE000059 | NGFR | CD271; Gp80-LNGFR; TNFRSF16; p75(NTR); p75NTR | nerve growth factor receptor |
| TCMBANKGE009628 | CHRNE | ACHRE; CMS1D; CMS1E; CMS2A; CMS4A; CMS4B; CMS4C; FCCMS; SCCMS | cholinergic receptor nicotinic epsilon subunit |
| TCMBANKGE003709 | ALG2 | CDG1I; CDGIi; CMS14; CMSTA3; NET38; hALPG2 | ALG2 alpha-1,3/1,6-mannosyltransferase |
| TCMBANKGE000239 | UTRN | DMDL; DRP; DRP1 | utrophin |
| TCMBANKGE007564 | CHRNB1 | ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS | cholinergic receptor nicotinic beta 1 subunit |
| TCMBANKGE011530 | RAPSN | CMS11; CMS4C; FADS; FADS2; RAPSYN; RNF205 | receptor associated protein of the synapse |
| TCMBANKGE002584 | CHD7 | CRG; HH5; IS3; KAL5 | chromodomain helicase DNA binding protein 7 |
| TCMBANKGE000233 | DES | CDCD3; CSM1; CSM2; LGMD1D; LGMD1E; LGMD2R | desmin |
| TCMBANKGE009982 | PREPL | CMS22 | prolyl endopeptidase like |
| TCMBANKGE014311 | COL13A1 | CMS19; COLXIIIA1 | collagen type XIII alpha 1 chain |
| TCMBANKGE003140 | HNRNPH1 | HNRPH; HNRPH1; hnRNPH | heterogeneous nuclear ribonucleoprotein H1 |
| TCMBANKGE000058 | SCN4A | CMS16; HOKPP2; HYKPP; HYPP; NAC1A; Na(V)1.4; Nav1.4; SkM1 | sodium voltage-gated channel alpha subunit 4 |
| TCMBANKGE012402 | NTRK1 | MTC; TRK; TRK1; TRKA; Trk-A; p140-TrkA | neurotrophic receptor tyrosine kinase 1 |
| TCMBANKGE003317 | DPAGT1 | ALG7; CDG-Ij; CDG1J; CMS13; CMSTA2; D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
| TCMBANKGE010583 | SMN2 | BCD541; C-BCD541; GEMIN1; SMNC; TDRD16B | survival of motor neuron 2, centromeric |
| TCMBANKGE013489 | SEMA7A | CD108; CDw108; H-SEMA-K1; H-Sema-L; JMH; SEMAK1; SEMAL | semaphorin 7A (John Milton Hagen blood group) |
| TCMBANKGE003873 | DOK7 | C4orf25; CMS10; CMS1B; FADS3 | docking protein 7 |
| TCMBANKGE008166 | AGRN | AGRIN; CMS8; CMSPPD | agrin |
| TCMBANKGE004587 | SLC25A1 | CMS23; CTP; D2L2AD; SEA; SLC20A3 | solute carrier family 25 member 1 |
| TCMBANKGE008048 | SLC5A7 | CHT; CHT1; CMS20; HMN7A | solute carrier family 5 member 7 |
| TCMBANKGE014586 | CHRNG | ACHRG | cholinergic receptor nicotinic gamma subunit |
| TCMBANKGE009792 | HNRNPH2 | FTP3; HNRPH'; HNRPH2; MRXSB; NRPH2; hnRNPH' | heterogeneous nuclear ribonucleoprotein H2 |
| TCMBANKGE012172 | LAMB2 | LAMS; NPHS5 | laminin subunit beta 2 |
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Dai SX Lab