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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Chrne 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 CHRNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 190 RGD objects have been annotated to congenital myasthenic syndrome  (DOID:3635)
  • 15 papers in RGD have been used to annotate Chrne
  • Curation Notes: ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital
  • Original References(s): PMID:10496269 PMID:10514102 PMID:10534268 PMID:11030414 PMID:11408331 PMID:12141316 PMID:12356851 PMID:12417530 PMID:12536367 PMID:14532324 PMID:15322984 PMID:15367858 PMID:15951177 PMID:16087917 PMID:16199547 PMID:17363247 PMID:17576681 PMID:17878953 PMID:18414213 PMID:19064877 PMID:19153382 PMID:19544078 PMID:20157724 PMID:20301347 PMID:20562457 PMID:21150643 PMID:21175599 PMID:21940170 PMID:22382357 PMID:22678886 PMID:22865819 PMID:24033266 PMID:24295813 PMID:25326635 PMID:25741868 PMID:26284228 PMID:26467025 PMID:27634344 PMID:27717316 PMID:28024842 PMID:28464723 PMID:28492532 PMID:29054425 PMID:29189923 PMID:29383513 PMID:30792901 PMID:31773638 PMID:31980526 PMID:32727330 PMID:36099689 PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 PMID:9536098 PMID:9539130 PMID:9668239 PMID:9708546


  • An association has been curated linking Chrne 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 CHRNE (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 190 RGD objects have been annotated to congenital myasthenic syndrome  (DOID:3635)
  • 15 papers in RGD have been used to annotate Chrne
  • Curation Notes: ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive | ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenic syndrome, slow-channel congenital
  • Original References(s): PMID:10496269 PMID:10514102 PMID:10534268 PMID:11030414 PMID:11408331 PMID:12141316 PMID:12356851 PMID:12417530 PMID:12536367 PMID:14532324 PMID:15322984 PMID:15367858 PMID:15951177 PMID:16087917 PMID:16199547 PMID:17363247 PMID:17576681 PMID:17878953 PMID:18414213 PMID:19064877 PMID:19153382 PMID:19544078 PMID:20157724 PMID:20301347 PMID:20562457 PMID:21150643 PMID:21175599 PMID:21940170 PMID:22382357 PMID:22678886 PMID:22865819 PMID:24033266 PMID:24295813 PMID:25326635 PMID:25741868 PMID:26284228 PMID:26467025 PMID:27634344 PMID:27717316 PMID:28024842 PMID:28464723 PMID:28492532 PMID:29054425 PMID:29189923 PMID:29383513 PMID:31980526 PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 PMID:9536098 PMID:9539130 PMID:9668239 PMID:9708546


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