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Pediatric Disease Annotations & Medicines



   neuromuscular junction disease
  

Disease ID 1655
Disease neuromuscular junction disease
Definition
Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
Synonym
neuromuscular junction dis
neuromuscular junction diseases
neuromuscular junction diseases [disease/finding]
neuromuscular junction disorder
neuromuscular junction disorder (disorder)
neuromuscular junction disorders
neuromuscular transm dis
neuromuscular transmission disorder
neuromuscular transmission disorders
Orphanet
DOID
UMLS
C0751950
MeSH
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:22)
LRP4  |  4038  |  UniProtKB-KW
CHRND  |  1144  |  UniProtKB-KW;GHR
SLC18A3  |  6572  |  UniProtKB-KW
RAPSN  |  5913  |  UniProtKB-KW;GHR
ALG2  |  85365  |  UniProtKB-KW
SCN4A  |  6329  |  UniProtKB-KW;GHR
MUSK  |  4593  |  UniProtKB-KW;GHR
CHAT  |  1103  |  UniProtKB-KW;GHR
SNAP25  |  6616  |  UniProtKB-KW
CHRNB1  |  1140  |  UniProtKB-KW;GHR
CHRNE  |  1145  |  UniProtKB-KW;GHR
AGRN  |  375790  |  UniProtKB-KW;GHR
PLEC  |  5339  |  GHR
DPAGT1  |  1798  |  UniProtKB-KW
ALG14  |  199857  |  UniProtKB-KW
COLQ  |  8292  |  UniProtKB-KW;GHR
SYT2  |  127833  |  UniProtKB-KW
COL13A1  |  1305  |  UniProtKB-KW
SLC5A7  |  60482  |  UniProtKB-KW
DOK7  |  285489  |  UniProtKB-KW;GHR
GFPT1  |  2673  |  UniProtKB-KW;GHR
CHRNA1  |  1134  |  UniProtKB-KW;GHR
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:358)
920  |  CD4  |  DISEASES
79931  |  TNIP3  |  DISEASES
23152  |  CIC  |  DISEASES
23645  |  PPP1R15A  |  DISEASES
7593  |  MZF1  |  DISEASES
5434  |  POLR2E  |  DISEASES
84844  |  PHF5A  |  DISEASES
10423  |  CDIPT  |  DISEASES
7038  |  TG  |  DISEASES
8797  |  TNFRSF10A  |  DISEASES
5971  |  RELB  |  DISEASES
2217  |  FCGRT  |  DISEASES
973  |  CD79A  |  DISEASES
3912  |  LAMB1  |  DISEASES
5949  |  RBP3  |  DISEASES
8288  |  EPX  |  DISEASES
3558  |  IL2  |  DISEASES
969  |  CD69  |  DISEASES
4618  |  MYF6  |  DISEASES
2735  |  GLI1  |  DISEASES
3458  |  IFNG  |  DISEASES
7167  |  TPI1  |  DISEASES
2026  |  ENO2  |  DISEASES
7287  |  TULP1  |  DISEASES
10279  |  PRSS16  |  DISEASES
3565  |  IL4  |  DISEASES
6500  |  SKP1  |  DISEASES
604  |  BCL6  |  DISEASES
2023  |  ENO1  |  DISEASES
25823  |  TPSG1  |  DISEASES
6402  |  SELL  |  DISEASES
7128  |  TNFAIP3  |  DISEASES
2703  |  GJA8  |  DISEASES
4656  |  MYOG  |  DISEASES
1271  |  CNTFR  |  DISEASES
11017  |  SNRNP27  |  DISEASES
583  |  BBS2  |  DISEASES
51081  |  MRPS7  |  DISEASES
30833  |  NT5C  |  DISEASES
718  |  C3  |  DISEASES
11034  |  DSTN  |  DISEASES
1236  |  CCR7  |  DISEASES
6779  |  STATH  |  DISEASES
4974  |  OMG  |  DISEASES
4654  |  MYOD1  |  DISEASES
50484  |  RRM2B  |  DISEASES
8735  |  MYH13  |  DISEASES
3852  |  KRT5  |  DISEASES
3911  |  LAMA5  |  DISEASES
83854  |  ANGPTL6  |  DISEASES
9590  |  AKAP12  |  DISEASES
6117  |  RPA1  |  DISEASES
182  |  JAG1  |  DISEASES
1401  |  CRP  |  DISEASES
6341  |  SCO1  |  DISEASES
4064  |  CD180  |  DISEASES
271  |  AMPD2  |  DISEASES
1828  |  DSG1  |  DISEASES
1144  |  CHRND  |  DISEASES
80326  |  WNT10A  |  DISEASES
3569  |  IL6  |  DISEASES
4836  |  NMT1  |  DISEASES
6366  |  CCL21  |  DISEASES
9581  |  PREPL  |  DISEASES
6741  |  SSB  |  DISEASES
1134  |  CHRNA1  |  DISEASES
6857  |  SYT1  |  DISEASES
55068  |  ENOX1  |  DISEASES
54832  |  VPS13C  |  DISEASES
3757  |  KCNH2  |  DISEASES
9093  |  DNAJA3  |  DISEASES
5264  |  PHYH  |  DISEASES
6855  |  SYP  |  DISEASES
3553  |  IL1B  |  DISEASES
55717  |  WDR11  |  DISEASES
3574  |  IL7  |  DISEASES
941  |  CD80  |  DISEASES
56925  |  LXN  |  DISEASES
590  |  BCHE  |  DISEASES
2255  |  FGF10  |  DISEASES
5443  |  POMC  |  DISEASES
3383  |  ICAM1  |  DISEASES
80321  |  CEP70  |  DISEASES
2028  |  ENPEP  |  DISEASES
10926  |  DBF4  |  DISEASES
5286  |  PIK3C2A  |  DISEASES
10180  |  RBM6  |  DISEASES
11070  |  TMEM115  |  DISEASES
939  |  CD27  |  DISEASES
7112  |  TMPO  |  DISEASES
5428  |  POLG  |  DISEASES
8826  |  IQGAP1  |  DISEASES
3687  |  ITGAX  |  DISEASES
1039  |  CDR2  |  DISEASES
7157  |  TP53  |  DISEASES
2212  |  FCGR2A  |  DISEASES
3756  |  KCNH1  |  DISEASES
805  |  CALM2  |  DISEASES
5433  |  POLR2D  |  DISEASES
3001  |  GZMA  |  DISEASES
8795  |  TNFRSF10B  |  DISEASES
3439  |  IFNA1  |  DISEASES
740  |  MRPL49  |  DISEASES
3606  |  IL18  |  DISEASES
7292  |  TNFSF4  |  DISEASES
2697  |  GJA1  |  DISEASES
761  |  CA3  |  DISEASES
1436  |  CSF1R  |  DISEASES
10563  |  CXCL13  |  DISEASES
26059  |  ERC2  |  DISEASES
56896  |  DPYSL5  |  DISEASES
3017  |  HIST1H2BD  |  DISEASES
56683  |  C21orf59  |  DISEASES
267  |  AMFR  |  DISEASES
115650  |  TNFRSF13C  |  DISEASES
808  |  CALM3  |  DISEASES
7032  |  TFF2  |  DISEASES
326  |  AIRE  |  DISEASES
643  |  CXCR5  |  DISEASES
1145  |  CHRNE  |  DISEASES
2215  |  FCGR3B  |  DISEASES
2019  |  EN1  |  DISEASES
29765  |  TMOD4  |  DISEASES
2560  |  GABRB1  |  DISEASES
213  |  ALB  |  DISEASES
8927  |  BSN  |  DISEASES
51151  |  SLC45A2  |  DISEASES
27242  |  TNFRSF21  |  DISEASES
1437  |  CSF2  |  DISEASES
7253  |  TSHR  |  DISEASES
5913  |  RAPSN  |  DISEASES
9150  |  CTDP1  |  DISEASES
4314  |  MMP3  |  DISEASES
6786  |  STIM1  |  DISEASES
5436  |  POLR2G  |  DISEASES
117245  |  HRASLS5  |  DISEASES
3960  |  LGALS4  |  DISEASES
79058  |  ASPSCR1  |  DISEASES
43  |  ACHE  |  DISEASES
1493  |  CTLA4  |  DISEASES
1140  |  CHRNB1  |  DISEASES
9655  |  SOCS5  |  DISEASES
154  |  ADRB2  |  DISEASES
7275  |  TUB  |  DISEASES
3575  |  IL7R  |  DISEASES
27087  |  B3GAT1  |  DISEASES
25992  |  SNED1  |  DISEASES
29925  |  GMPPB  |  DISEASES
27165  |  GLS2  |  DISEASES
9024  |  BRSK2  |  DISEASES
924  |  CD7  |  DISEASES
1605  |  DAG1  |  DISEASES
11238  |  CA5B  |  DISEASES
9495  |  AKAP5  |  DISEASES
6440  |  SFTPC  |  DISEASES
1604  |  CD55  |  DISEASES
10318  |  TNIP1  |  DISEASES
4684  |  NCAM1  |  DISEASES
783  |  CACNB2  |  DISEASES
80381  |  CD276  |  DISEASES
643834  |  PGA3  |  DISEASES
9203  |  ZMYM3  |  DISEASES
9202  |  ZMYM4  |  DISEASES
5339  |  PLEC  |  DISEASES
7706  |  TRIM25  |  DISEASES
4670  |  HNRNPM  |  DISEASES
26230  |  TIAM2  |  DISEASES
23101  |  MCF2L2  |  DISEASES
8784  |  TNFRSF18  |  DISEASES
3739  |  KCNA4  |  DISEASES
6331  |  SCN5A  |  DISEASES
6656  |  SOX1  |  DISEASES
9021  |  SOCS3  |  DISEASES
942  |  CD86  |  DISEASES
90249  |  UNC5A  |  DISEASES
3916  |  LAMP1  |  DISEASES
5133  |  PDCD1  |  DISEASES
135  |  ADORA2A  |  DISEASES
1103  |  CHAT  |  DISEASES
10011  |  SRA1  |  DISEASES
8165  |  AKAP1  |  DISEASES
50615  |  IL21R  |  DISEASES
6809  |  STX3  |  DISEASES
23583  |  SMUG1  |  DISEASES
3117  |  HLA-DQA1  |  DISEASES
3329  |  HSPD1  |  DISEASES
966  |  CD59  |  DISEASES
126364  |  LRRC25  |  DISEASES
859  |  CAV3  |  DISEASES
921  |  CD5  |  DISEASES
7273  |  TTN  |  DISEASES
3605  |  IL17A  |  DISEASES
285489  |  DOK7  |  DISEASES
84940  |  CORO6  |  DISEASES
3767  |  KCNJ11  |  DISEASES
1861  |  TOR1A  |  DISEASES
6146  |  RPL22  |  DISEASES
1798  |  DPAGT1  |  DISEASES
27044  |  SND1  |  DISEASES
5325  |  PLAGL1  |  DISEASES
51322  |  WAC  |  DISEASES
9260  |  PDLIM7  |  DISEASES
4649  |  MYO9A  |  DISEASES
273  |  AMPH  |  DISEASES
3187  |  HNRNPH1  |  DISEASES
801  |  CALM1  |  DISEASES
1996  |  ELAVL4  |  DISEASES
9204  |  ZMYM6  |  DISEASES
23141  |  ANKLE2  |  DISEASES
2213  |  FCGR2B  |  DISEASES
9652  |  TTC37  |  DISEASES
6261  |  RYR1  |  DISEASES
26191  |  PTPN22  |  DISEASES
4151  |  MB  |  DISEASES
10092  |  ARPC5  |  DISEASES
3123  |  HLA-DRB1  |  DISEASES
7037  |  TFRC  |  DISEASES
773  |  CACNA1A  |  DISEASES
170482  |  CLEC4C  |  DISEASES
2107  |  ETF1  |  DISEASES
23085  |  ERC1  |  DISEASES
2673  |  GFPT1  |  DISEASES
4512  |  MT-CO1  |  DISEASES
4519  |  MT-CYB  |  DISEASES
26047  |  CNTNAP2  |  DISEASES
9542  |  NRG2  |  DISEASES
1756  |  DMD  |  DISEASES
4536  |  MT-ND2  |  DISEASES
779  |  CACNA1S  |  DISEASES
6262  |  RYR2  |  DISEASES
11116  |  FGFR1OP  |  DISEASES
51514  |  DTL  |  DISEASES
1378  |  CR1  |  DISEASES
1380  |  CR2  |  DISEASES
6993  |  DYNLT1  |  DISEASES
127833  |  SYT2  |  DISEASES
5788  |  PTPRC  |  DISEASES
7402  |  UTRN  |  DISEASES
356  |  FASLG  |  DISEASES
2214  |  FCGR3A  |  DISEASES
912  |  CD1D  |  DISEASES
7062  |  TCHH  |  DISEASES
4942  |  OAT  |  DISEASES
8349  |  HIST2H2BE  |  DISEASES
914  |  CD2  |  DISEASES
965  |  CD58  |  DISEASES
199857  |  ALG14  |  DISEASES
1137  |  CHRNA4  |  DISEASES
959  |  CD40LG  |  DISEASES
5223  |  PGAM1  |  DISEASES
1791  |  DNTT  |  DISEASES
732  |  C8B  |  DISEASES
774  |  CACNA1B  |  DISEASES
9211  |  LGI1  |  DISEASES
6834  |  SURF1  |  DISEASES
958  |  CD40  |  DISEASES
3188  |  HNRNPH2  |  DISEASES
1441  |  CSF3R  |  DISEASES
10773  |  ZBTB6  |  DISEASES
2833  |  CXCR3  |  DISEASES
7099  |  TLR4  |  DISEASES
6572  |  SLC18A3  |  DISEASES
1043  |  CD52  |  DISEASES
3710  |  ITPR3  |  DISEASES
4593  |  MUSK  |  DISEASES
2582  |  GALE  |  DISEASES
3339  |  HSPG2  |  DISEASES
3108  |  HLA-DMA  |  DISEASES
3118  |  HLA-DQA2  |  DISEASES
3376  |  IARS  |  DISEASES
10673  |  TNFSF13B  |  DISEASES
50943  |  FOXP3  |  DISEASES
7133  |  TNFRSF1B  |  DISEASES
1041  |  CDSN  |  DISEASES
2017  |  CTTN  |  DISEASES
3105  |  HLA-A  |  DISEASES
4340  |  MOG  |  DISEASES
11166  |  SOX21  |  DISEASES
8718  |  TNFRSF25  |  DISEASES
6520  |  SLC3A2  |  DISEASES
643847  |  PGA4  |  DISEASES
4038  |  LRP4  |  DISEASES
448831  |  FRG2  |  DISEASES
56261  |  GPCPD1  |  DISEASES
7293  |  TNFRSF4  |  DISEASES
375790  |  AGRN  |  DISEASES
146  |  ADRA1D  |  DISEASES
7222  |  TRPC3  |  DISEASES
3456  |  IFNB1  |  DISEASES
6606  |  SMN1  |  DISEASES
29126  |  CD274  |  DISEASES
51378  |  ANGPT4  |  DISEASES
4155  |  MBP  |  DISEASES
7750  |  ZMYM2  |  DISEASES
361  |  AQP4  |  DISEASES
8292  |  COLQ  |  DISEASES
1146  |  CHRNG  |  DISEASES
4099  |  MAG  |  DISEASES
51347  |  TAOK3  |  DISEASES
26468  |  LHX6  |  DISEASES
79868  |  ALG13  |  DISEASES
145957  |  NRG4  |  DISEASES
174  |  AFP  |  DISEASES
23164  |  MPRIP  |  DISEASES
56666  |  PANX2  |  DISEASES
6843  |  VAMP1  |  DISEASES
6202  |  RPS8  |  DISEASES
1305  |  COL13A1  |  DISEASES
3119  |  HLA-DQB1  |  DISEASES
54890  |  ALKBH5  |  DISEASES
7441  |  VPREB1  |  DISEASES
55777  |  MBD5  |  DISEASES
3267  |  AGFG1  |  DISEASES
65986  |  ZBTB10  |  DISEASES
3120  |  HLA-DQB2  |  DISEASES
2260  |  FGFR1  |  DISEASES
81542  |  TMX1  |  DISEASES
6329  |  SCN4A  |  DISEASES
7124  |  TNF  |  DISEASES
3106  |  HLA-B  |  DISEASES
2130  |  EWSR1  |  DISEASES
5817  |  PVR  |  DISEASES
4049  |  LTA  |  DISEASES
84148  |  KAT8  |  DISEASES
3115  |  HLA-DPB1  |  DISEASES
221833  |  SP8  |  DISEASES
8525  |  DGKZ  |  DISEASES
3586  |  IL10  |  DISEASES
54475  |  NLE1  |  DISEASES
5682  |  PSMA1  |  DISEASES
721  |  C4B  |  DISEASES
27333  |  GOLIM4  |  DISEASES
340526  |  RGAG4  |  DISEASES
672  |  BRCA1  |  DISEASES
10772  |  SRSF10  |  DISEASES
57541  |  ZNF398  |  DISEASES
51428  |  DDX41  |  DISEASES
22999  |  RIMS1  |  DISEASES
10687  |  PNMA2  |  DISEASES
270  |  AMPD1  |  DISEASES
84992  |  PIGY  |  DISEASES
727897  |  MUC5B  |  DISEASES
930  |  CD19  |  DISEASES
56961  |  SHD  |  DISEASES
8972  |  MGAM  |  DISEASES
3949  |  LDLR  |  DISEASES
820  |  CAMP  |  DISEASES
8792  |  TNFRSF11A  |  DISEASES
100302692  |  FTX  |  DISEASES
10255  |  HCG9  |  DISEASES
102723508  |  KANTR  |  DISEASES
4553  |  MT-TA  |  DISEASES
4511  |  MT-TC  |  DISEASES
4555  |  MT-TD  |  DISEASES
4563  |  MT-TG  |  DISEASES
4564  |  MT-TH  |  DISEASES
4576  |  MT-TT  |  DISEASES
103164619  |  PCAT2  |  DISEASES
Locus(Waiting for update.)
Disease ID 1655
Disease neuromuscular junction disease
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype(Waiting for update.)
Disease ID 1655
Disease neuromuscular junction disease
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:2)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0751950chloroquineD0027381954/5/7neuromuscular junction diseasesMESH:D020511marker/mechanism2650665
C0751950vincristineD014750-neuromuscular junction diseasesMESH:D020511marker/mechanism172049
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)