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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Dpagt1 and congenital myasthenic syndrome 13 in Chinchilla lanigera.        

  • 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 DPAGT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to congenital myasthenic syndrome 13  (DOID:0110676)
  • 2 papers in RGD have been used to annotate Dpagt1


    • An association has been curated linking Dpagt1 and congenital myasthenic syndrome 13 in Chinchilla lanigera.        

  • 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 DPAGT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to congenital myasthenic syndrome 13  (DOID:0110676)
  • 2 papers in RGD have been used to annotate Dpagt1
  • Curation Notes: ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2
  • Original References(s): PMID:12872255 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22742743 PMID:22786653 PMID:23249953 PMID:23430862 PMID:23591138 PMID:23806237 PMID:24033266 PMID:24759841 PMID:25500013 PMID:25741868 PMID:26467025 PMID:28454995 PMID:28492532 PMID:28662078 PMID:28712839 PMID:30117111 PMID:30388443 PMID:31127727 PMID:31153949 PMID:31589614 PMID:33743358 PMID:9536098


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