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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Chrnb1 and congenital myasthenic syndrome 4C 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 CHRNB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to congenital myasthenic syndrome 4C  (DOID:0110679)
  • 14 papers in RGD have been used to annotate Chrnb1
  • Curation Notes: ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Chrnb1 and congenital myasthenic syndrome 4C 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 CHRNB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to congenital myasthenic syndrome 4C  (DOID:0110679)
  • 14 papers in RGD have been used to annotate Chrnb1
  • Curation Notes: ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency


  • An association has been curated linking Chrnb1 and congenital myasthenic syndrome 4C 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 CHRNB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to congenital myasthenic syndrome 4C  (DOID:0110679)
  • 14 papers in RGD have been used to annotate Chrnb1
  • Curation Notes: ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
  • Original References(s): PMID:28492532


  • An association has been curated linking Chrnb1 and congenital myasthenic syndrome 4C 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 CHRNB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to congenital myasthenic syndrome 4C  (DOID:0110679)
  • 14 papers in RGD have been used to annotate Chrnb1
  • Curation Notes: ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
  • Original References(s): PMID:18414213 PMID:25741868


  • An association has been curated linking Chrnb1 and congenital myasthenic syndrome 4C 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 CHRNB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to congenital myasthenic syndrome 4C  (DOID:0110679)
  • 14 papers in RGD have been used to annotate Chrnb1
  • Curation Notes: ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
  • Original References(s): PMID:25741868


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