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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:congenital myasthenic syndrome 2A
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Accession:DOID:0110681 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS IIA;   CMS2A;   congenital myasthenic syndrome 2A slow-channel
 primary_id: MIM:616313
 alt_id: RDO:9003082


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congenital myasthenic syndrome 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930563E22Rik RIKEN cDNA 4930563E22 gene ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:72,105,964...72,109,276
Ensembl chr11:72,105,964...72,109,270 		JBrowse link
G 4933427D14Rik RIKEN cDNA 4933427D14 gene ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:72,044,755...72,098,308
Ensembl chr11:72,044,755...72,098,285
Ensembl chr11:72,044,755...72,098,285 		JBrowse link
G Acadvl acyl-Coenzyme A dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,901,009...69,906,254
Ensembl chr11:69,901,009...69,906,237 		JBrowse link
G Acap1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,772,393...69,786,390
Ensembl chr11:69,772,393...69,786,365 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:71,919,527...71,933,184
Ensembl chr11:71,918,789...71,928,335 		JBrowse link
G Alox12 arachidonate 12-lipoxygenase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:70,132,283...70,146,206
Ensembl chr11:70,132,283...70,146,179 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,939,735...69,948,721
Ensembl chr11:69,944,911...69,948,720 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,983,470...69,997,013
Ensembl chr11:69,983,470...69,997,013 		JBrowse link
G Atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,490,554...69,496,786
Ensembl chr11:69,490,562...69,496,768 		JBrowse link
G Bacc1 BPTF associated chromatin complex component 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:70,126,030...70,128,808
Ensembl chr11:70,126,032...70,128,740 		JBrowse link
G Bcl6b B cell CLL/lymphoma 6, member B ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:70,114,953...70,120,624
Ensembl chr11:70,114,954...70,120,624 		JBrowse link
G Cd68 CD68 antigen ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979 		JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A OMIM
ClinVar		 PMID:8651643 PMID:8872460 PMID:9536098 PMID:10562302 PMID:16199547 More... NCBI chr11:69,674,862...69,686,742
Ensembl chr11:69,674,862...69,686,769 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,855,605...69,858,712
Ensembl chr11:69,855,605...69,858,711 		JBrowse link
G Clec10a C-type lectin domain family 10, member A ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:70,057,449...70,061,662
Ensembl chr11:70,047,023...70,061,660 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,871,994...69,881,427
Ensembl chr11:69,871,982...69,881,427 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,908,029...69,938,107
Ensembl chr11:69,907,768...69,938,348 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,891,418...69,900,935
Ensembl chr11:69,891,421...69,903,127 		JBrowse link
G Eif4a1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,557,762...69,563,249
Ensembl chr11:69,557,762...69,563,249 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,807,538...69,812,784
Ensembl chr11:69,807,540...69,812,784 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,859,050...69,872,352
Ensembl chr11:69,859,048...69,873,343 		JBrowse link
G Fbxo39 F-box protein 39 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:72,205,270...72,210,245
Ensembl chr11:72,205,270...72,210,242 		JBrowse link
G Fgf11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,686,894...69,693,775
Ensembl chr11:69,686,894...69,692,683 		JBrowse link
G Fxr2 FMR1 autosomal homolog 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,523,788...69,544,123
Ensembl chr11:69,523,816...69,544,123 		JBrowse link
G Gabarap gamma-aminobutyric acid receptor associated protein ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,882,196...69,885,775
Ensembl chr11:69,881,969...69,885,777 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,804,805...69,807,882
Ensembl chr11:69,804,714...69,807,417 		JBrowse link
G Kctd11 potassium channel tetramerisation domain containing 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,769,090...69,771,811
Ensembl chr11:69,769,087...69,772,232 		JBrowse link
G Med31 mediator complex subunit 31 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:72,102,550...72,106,418
Ensembl chr11:72,102,550...72,106,418 		JBrowse link
G Mir195a microRNA 195a ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:70,125,868...70,125,961
Ensembl chr11:70,125,868...70,125,961 		JBrowse link
G Mpdu1 mannose-P-dolichol utilization defect 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,547,523...69,553,475
Ensembl chr11:69,547,523...69,553,468 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,792,545...69,804,648
Ensembl chr11:69,791,898...69,804,646 		JBrowse link
G Nlgn2 neuroligin 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,713,949...69,728,610
Ensembl chr11:69,713,948...69,728,610 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,886,592...69,890,837
Ensembl chr11:69,886,603...69,890,835 		JBrowse link
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:71,932,867...71,938,197
Ensembl chr11:71,932,858...71,938,196 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:71,938,354...72,026,715
Ensembl chr11:71,938,354...72,026,604 		JBrowse link
G Plscr3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,734,937...69,742,884
Ensembl chr11:69,737,202...69,742,884 		JBrowse link
G Polr2a polymerase (RNA) II (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,624,823...69,649,459
Ensembl chr11:69,624,823...69,649,463 		JBrowse link
G Rnasek ribonuclease, RNase K ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:70,128,949...70,130,678
Ensembl chr11:70,126,032...70,130,656
Ensembl chr11:70,126,032...70,130,656 		JBrowse link
G Sat2 spermidine/spermine N1-acetyl transferase 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,512,824...69,514,857
Ensembl chr11:69,512,850...69,514,696 		JBrowse link
G Senp3 SUMO/sentrin specific peptidase 3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,563,936...69,572,910
Ensembl chr11:69,563,941...69,572,910 		JBrowse link
G Shbg sex hormone binding globulin ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,501,108...69,508,852
Ensembl chr11:69,505,630...69,508,731 		JBrowse link
G Slc13a5 solute carrier family 13 (sodium-dependent citrate transporter), member 5 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:72,132,816...72,158,092
Ensembl chr11:72,132,815...72,158,048 		JBrowse link
G Slc16a11 solute carrier family 16 (monocarboxylic acid transporters), member 11 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:70,104,717...70,107,239
Ensembl chr11:70,103,578...70,107,243 		JBrowse link
G Slc16a13 solute carrier family 16 (monocarboxylic acid transporters), member 13 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:70,107,615...70,113,638
Ensembl chr11:70,107,615...70,111,890 		JBrowse link
G Slc2a4 solute carrier family 2 (facilitated glucose transporter), member 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,833,112...69,839,040
Ensembl chr11:69,833,365...69,839,014 		JBrowse link
G Sox15 SRY (sex determining region Y)-box 15 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,545,863...69,547,553
Ensembl chr11:69,546,140...69,547,553 		JBrowse link
G Spem1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,711,697...69,712,991
Ensembl chr11:69,711,702...69,713,006 		JBrowse link
G Spem2 SPEM family member 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,707,386...69,709,313
Ensembl chr11:69,707,392...69,709,291 		JBrowse link
G Tekt1 tektin 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:72,235,543...72,253,268
Ensembl chr11:72,235,548...72,253,268 		JBrowse link
G Tmem102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,694,421...69,696,450
Ensembl chr11:69,694,429...69,696,450 		JBrowse link
G Tmem256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,729,375...69,730,813
Ensembl chr11:69,729,340...69,730,444 		JBrowse link
G Tmem95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,766,880...69,768,997
Ensembl chr11:69,766,883...69,768,879 		JBrowse link
G Tnfsf12 tumor necrosis factor (ligand) superfamily, member 12 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,577,066...69,586,924
Ensembl chr11:69,577,076...69,586,675 		JBrowse link
G Tnfsf13 tumor necrosis factor (ligand) superfamily, member 13 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,573,403...69,576,380
Ensembl chr11:69,573,672...69,576,610 		JBrowse link
G Tnfsfm13 tumor necrosis factor (ligand) superfamily, membrane-bound member 13 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,573,403...69,586,924
Ensembl chr11:69,573,403...69,586,924 		JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,741,389...69,749,556
Ensembl chr11:69,741,831...69,749,556 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Txndc17 thioredoxin domain containing 17 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:72,098,380...72,101,313
Ensembl chr11:72,098,373...72,100,841 		JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,452,580...69,471,076
Ensembl chr11:69,452,584...69,471,081 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:72,192,229...72,204,560
Ensembl chr11:72,192,455...72,204,559 		JBrowse link
G Ybx2 Y box protein 2 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,826,652...69,832,430
Ensembl chr11:69,826,622...69,832,431 		JBrowse link
G Zbtb4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A ClinVar PMID:28492532 NCBI chr11:69,656,738...69,674,852
Ensembl chr11:69,656,738...69,674,849 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16226
    physical disorder 5231
      congenital myasthenic syndrome 191
        congenital myasthenic syndrome 2A 62
Path 2
Term Annotations click to browse term
  disease 16226
    disease of anatomical entity 15845
      nervous system disease 13766
        peripheral nervous system disease 4274
          neuropathy 4074
            neuromuscular disease 3226
              neuromuscular junction disease 221
                congenital myasthenic syndrome 191
                  congenital myasthenic syndrome 2A 62
paths to the root