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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ins2 and Segawa Syndrome, Autosomal Recessive in Mus musculus.        

  • 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 INS (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 54 RGD objects have been annotated to Segawa Syndrome, Autosomal Recessive  (DOID:9004035)
  • 56 papers in RGD have been used to annotate Ins2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia
  • Original References(s): PMID:11921414 PMID:12610512 PMID:18162506 PMID:18171712 PMID:20809526 PMID:22264700 PMID:22572540 PMID:24275212 PMID:24753243 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:27635400 PMID:28492532 PMID:30455893 PMID:30456822 PMID:33206859 PMID:33953728 PMID:35083481


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