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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking NKX2-1-AS1 and Brain-Lung-Thyroid Syndrome 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:11619518 (Homo sapiens)
  • 193 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 0 papers in RGD have been used to annotate NKX2-1-AS1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking NKX2-1-AS1 and Brain-Lung-Thyroid Syndrome 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:11650899|RGD:21072584 (Homo sapiens) & RGD:11650899|RGD:21072584 (Homo sapiens)
  • 193 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 0 papers in RGD have been used to annotate NKX2-1-AS1
  • Curation Notes: ClinVar Annotator: match by term: Brain-lung-thyroid syndrome


  • An association has been curated linking NKX2-1-AS1 and Brain-Lung-Thyroid Syndrome 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:11616156|RGD:596925162 (Homo sapiens) & RGD:11616156|RGD:596925162 (Homo sapiens)
  • 193 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 0 papers in RGD have been used to annotate NKX2-1-AS1
  • Curation Notes: ClinVar Annotator: match by term: Brain-lung-thyroid syndrome
  • Original References(s): PMID:25741868


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