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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PKD1L1 and visceral heterotaxy 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:40813773 (Homo sapiens)
  • 129 RGD objects have been annotated to visceral heterotaxy  (DOID:0050545)
  • 6 papers in RGD have been used to annotate PKD1L1
  • Curation Notes: ClinVar Annotator: match by term: Visceral heterotaxy
  • Original References(s): PMID:33655537


  • An association has been curated linking PKD1L1 and visceral heterotaxy 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:150520562 (Homo sapiens)
  • 129 RGD objects have been annotated to visceral heterotaxy  (DOID:0050545)
  • 6 papers in RGD have been used to annotate PKD1L1
  • Curation Notes: ClinVar Annotator: match by term: Situs ambiguus


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