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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Colq and congenital myasthenic syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with COLQ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 190 RGD objects have been annotated to congenital myasthenic syndrome  (DOID:3635)
  • 12 papers in RGD have been used to annotate Colq
  • Curation Notes: ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital | ClinVar Annotator: match by term: Synaptic congenital myasthenic syndrome
  • Original References(s): PMID:10441569 PMID:10665486 PMID:14702351 PMID:15034283 PMID:15159418 PMID:16199547 PMID:17576681 PMID:18180250 PMID:20370815 PMID:21952943 PMID:22088788 PMID:22678886 PMID:22960500 PMID:23371844 PMID:23553736 PMID:24033266 PMID:24281389 PMID:25557462 PMID:25741868 PMID:26467025 PMID:27830186 PMID:28024842 PMID:28464723 PMID:28492532 PMID:29054425 PMID:30124556 PMID:32978031 PMID:33756069 PMID:34749429 PMID:34912755 PMID:8390325 PMID:9536098 PMID:9689136 PMID:9758617


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