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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Limk1 and Williams-Beuren syndrome in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 32 RGD objects have been annotated to Williams-Beuren syndrome  (DOID:1928)
  • 12 papers in RGD have been used to annotate Limk1
  • Curation Notes: OMIM:194050


    • An association has been curated linking Limk1 and Williams-Beuren syndrome 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 LIMK1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 32 RGD objects have been annotated to Williams-Beuren syndrome  (DOID:1928)
  • 12 papers in RGD have been used to annotate Limk1
  • Curation Notes: ClinVar Annotator: match by term: Williams syndrome
  • Original References(s): PMID:25741868


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