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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, Fast-Channel
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Accession:DOID:9006988 term browser browse the term
Synonyms:primary_id: MESH:C563832
 alt_id: RDO:0012991


show annotations for term's descendants           Sort by:
Congenital Myasthenic Syndrome, Fast-Channel term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
congenital myasthenic syndrome 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Chrna1 cholinergic receptor nicotinic alpha 1 subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel OMIM
ClinVar		 PMID:7254233 PMID:10195214 PMID:12588888 PMID:15079006 PMID:18806275 More... NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 1B, fast-channel ClinVar PMID:8755487 PMID:17878953 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
congenital myasthenic syndrome 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 3B OMIM
ClinVar		 PMID:11435464 PMID:12499478 PMID:16199547 PMID:16916845 PMID:18252226 More... NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833 		JBrowse link
congenital myasthenic syndrome 4B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10h17orf107 similar to human chromosome 17 open reading frame 107 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel ClinVar PMID:8232384 PMID:8663316 PMID:8755487 PMID:9097970 PMID:9158150 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196 		JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4b, fast-channel OMIM
ClinVar		 PMID:8232384 PMID:8663316 PMID:8755487 PMID:8957026 PMID:9097970 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530 		JBrowse link
G Mink1 misshapen-like kinase 1 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4B ClinVar PMID:9097970 PMID:9668239 PMID:10496269 PMID:10514102 PMID:10534268 More... NCBI chr10:55,278,293...55,330,782
Ensembl chr10:55,278,391...55,330,782 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    physical disorder 5170
      congenital myasthenic syndrome 190
        Congenital Myasthenic Syndrome, Fast-Channel 5
          congenital myasthenic syndrome 1B 3
          congenital myasthenic syndrome 3B 1
          congenital myasthenic syndrome 4B 3
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        peripheral nervous system disease 4263
          neuropathy 4049
            neuromuscular disease 3191
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  Congenital Myasthenic Syndrome, Fast-Channel 5
                    congenital myasthenic syndrome 1B 3
                    congenital myasthenic syndrome 3B 1
                    congenital myasthenic syndrome 4B 3
paths to the root