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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking NKX2-5 and Cardiovascular Abnormalities 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:10044679 (Homo sapiens)
  • 2116 RGD objects have been annotated to Cardiovascular Abnormalities  (DOID:9002682)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology
  • Original References(s): PMID:14607454 PMID:18414213 PMID:19181906 PMID:22179962 PMID:25741868 PMID:28492532 PMID:31824610 PMID:33835496


  • An association has been curated linking NKX2-5 and Cardiovascular Abnormalities 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:10408298|RGD:10408407 (Homo sapiens) & RGD:10408298|RGD:10408407 (Homo sapiens)
  • 2116 RGD objects have been annotated to Cardiovascular Abnormalities  (DOID:9002682)
  • 24 papers in RGD have been used to annotate NKX2-5
  • Curation Notes: ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology
  • Original References(s): PMID:18414213


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