Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

20 Annotations Found.

An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Nettore IC, etal., Thyroid. 2013 Jun;23(6):675-82. doi: 10.1089/thy.2012.0267.
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Nettore IC, etal., Thyroid. 2013 Jun;23(6):675-82. doi: 10.1089/thy.2012.0267.
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: DNA:deletion:exon:p.R165Gfs*32 (c.493delC) (human)


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Ferrara AM, etal., Thyroid. 2008 Sep;18(9):1005-9. doi: 10.1089/thy.2008.0085.
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Ferrara AM, etal., Thyroid. 2008 Sep;18(9):1005-9. doi: 10.1089/thy.2008.0085.
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: DNA:nonsense mutation:exon:p.S145X (c.609C>A) (human)


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from McMichael G, etal., Eur J Med Genet. 2013 Sep;56(9):506-9. doi: 10.1016/j.ejmg.2013.07.003. Epub 2013 Jul 30.
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from McMichael G, etal., Eur J Med Genet. 2013 Sep;56(9):506-9. doi: 10.1016/j.ejmg.2013.07.003. Epub 2013 Jul 30.
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: DNA:deletion:exon:p.M29Afs*40 (c.84_90del) (human)


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Koht J, etal., Cerebellum Ataxias. 2016 Feb 2;3:3. doi: 10.1186/s40673-016-0041-7. eCollection 2016.
  • The annotation has been inferred from sequence orthology with NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Koht J, etal., Cerebellum Ataxias. 2016 Feb 2;3:3. doi: 10.1186/s40673-016-0041-7. eCollection 2016.
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: DNA:missense mutation exon:p.L224R (c.671T>G) (human)


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by OMIM:610978
  • Original References(s): PMID:15289765 PMID:19336474


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by OMIM:610978
  • Original References(s): PMID:18788921 PMID:24555207


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by OMIM:610978
  • Original References(s): PMID:11854319


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:25741868


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by OMIM:610978


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:19176457


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:17220277 PMID:25741868


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:25326635 PMID:25741868


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:11854318 PMID:25741868


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:28492532


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • 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 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:25741868 PMID:29538355


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:12891678


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:15955952 PMID:25741868


  • An association has been curated linking Nkx2-1 and Brain-Lung-Thyroid Syndrome in Rattus norvegicus.        

  • 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 NKX2-1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Brain-Lung-Thyroid Syndrome  (DOID:9004758)
  • 41 papers in RGD have been used to annotate Nkx2-1
  • Curation Notes: ClinVar Annotator: match by term: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
  • Original References(s): PMID:19336474 PMID:25741868


  • Go Back to source page   Continue to Ontology report