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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking INTS11 and congenital myasthenic syndrome 8 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13623753|RGD:26894576 (Homo sapiens) & RGD:13623753|RGD:26894576 (Homo sapiens)
  • 100 RGD objects have been annotated to congenital myasthenic syndrome 8  (DOID:0110657)
  • 2 papers in RGD have been used to annotate INTS11
  • Curation Notes: ClinVar Annotator: match by term: Congenital myasthenic syndrome 8
  • Original References(s): PMID:24951643 PMID:28492532


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