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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking NKX2-5 and Interrupted aortic arch 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:8560829 (Homo sapiens)
  • 21 RGD objects have been annotated to Interrupted aortic arch  (HP:0011611)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Interrupted aortic arch
  • Original References(s): PMID:10587520 PMID:10903346 PMID:11714651 PMID:14607454 PMID:16418214 PMID:17891434 PMID:19073351 PMID:19464101 PMID:19533775 PMID:19948535 PMID:20456451 PMID:20807224 PMID:24033266 PMID:25741868 PMID:28492532


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