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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Alg2 and congenital myasthenic syndrome 14 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with ALG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 RGD objects have been annotated to congenital myasthenic syndrome 14  (DOID:0110669)
  • 7 papers in RGD have been used to annotate Alg2


    • An association has been curated linking Alg2 and congenital myasthenic syndrome 14 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 ALG2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 RGD objects have been annotated to congenital myasthenic syndrome 14  (DOID:0110669)
  • 7 papers in RGD have been used to annotate Alg2
  • Curation Notes: ClinVar Annotator: match by term: Congenital myasthenic syndrome 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates
  • Original References(s): PMID:12684507 PMID:20813212 PMID:23404334 PMID:25741868 PMID:28492532 PMID:30061496


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