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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Col13a1 and congenital myasthenic syndrome 19 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 COL13A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myasthenic syndrome 19  (DOID:0110673)
  • 5 papers in RGD have been used to annotate Col13a1


    • An association has been curated linking Col13a1 and congenital myasthenic syndrome 19 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 COL13A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myasthenic syndrome 19  (DOID:0110673)
  • 5 papers in RGD have been used to annotate Col13a1
  • Curation Notes: ClinVar Annotator: match by term: COL13A1-related condition | ClinVar Annotator: match by term: Congenital myasthenic syndrome 19
  • Original References(s): PMID:16199547 PMID:17576681 PMID:25741868 PMID:26626625 PMID:28492532 PMID:30767057 PMID:31081514 PMID:9536098


    • An association has been curated linking Col13a1 and congenital myasthenic syndrome 19 in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Col13a1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myasthenic syndrome 19  (DOID:0110673)
  • 5 papers in RGD have been used to annotate Col13a1
  • Curation Notes: OMIM:616720


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