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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Rit1 and Noonan syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Takahara S, etal., EBioMedicine. 2019 Apr;42:43-53. doi: 10.1016/j.ebiom.2019.03.014. Epub 2019 Mar 18.
  • The annotation has been inferred from sequence orthology with Rit1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Takahara S, etal., EBioMedicine. 2019 Apr;42:43-53. doi: 10.1016/j.ebiom.2019.03.014. Epub 2019 Mar 18.
  • 54 RGD objects have been annotated to Noonan syndrome  (DOID:3490)
  • 11 papers in RGD have been used to annotate Rit1


    • An association has been curated linking Rit1 and Noonan syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Chen PC, etal., Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas.1324128111. Epub 2014 Jul 21.
  • The annotation has been inferred from sequence orthology with RIT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Chen PC, etal., Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas.1324128111. Epub 2014 Jul 21.
  • 54 RGD objects have been annotated to Noonan syndrome  (DOID:3490)
  • 11 papers in RGD have been used to annotate Rit1
  • Curation Notes: DNA:missense mutations:exon:multiple (human)


    • An association has been curated linking Rit1 and Noonan syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Castel P, etal., Science. 2019 Mar 15;363(6432):1226-1230. doi: 10.1126/science.aav1444.
  • The annotation has been inferred from sequence orthology with Rit1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 5 additional annotations were made from Castel P, etal., Science. 2019 Mar 15;363(6432):1226-1230. doi: 10.1126/science.aav1444.
  • 54 RGD objects have been annotated to Noonan syndrome  (DOID:3490)
  • 11 papers in RGD have been used to annotate Rit1


    • An association has been curated linking Rit1 and Noonan syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yaoita M, etal., Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29.
  • The annotation has been inferred from sequence orthology with RIT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 additional annotations were made from Yaoita M, etal., Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29.
  • 54 RGD objects have been annotated to Noonan syndrome  (DOID:3490)
  • 11 papers in RGD have been used to annotate Rit1
  • Curation Notes: DNA:missense mutation:exon:multiple 9human)


    • An association has been curated linking Rit1 and Noonan syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cave H, etal., Eur J Hum Genet. 2016 Jan 13. doi: 10.1038/ejhg.2015.273.
  • The annotation has been inferred from sequence orthology with RIT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Cave H, etal., Eur J Hum Genet. 2016 Jan 13. doi: 10.1038/ejhg.2015.273.
  • 54 RGD objects have been annotated to Noonan syndrome  (DOID:3490)
  • 11 papers in RGD have been used to annotate Rit1
  • Curation Notes: DNA:missense mutations:exon:multiple (human)


    • An association has been curated linking Rit1 and Noonan 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 RIT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 54 RGD objects have been annotated to Noonan syndrome  (DOID:3490)
  • 11 papers in RGD have been used to annotate Rit1
  • Curation Notes: ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
  • Original References(s): PMID:23791108 PMID:24033266 PMID:2439608 PMID:24469055 PMID:24803665 PMID:24896146 PMID:24901346 PMID:24939608 PMID:25049390 PMID:25124994 PMID:25294908 PMID:25741868 PMID:25959749 PMID:26242988 PMID:26446362 PMID:2657980 PMID:26714497 PMID:26757980 PMID:27101134 PMID:27109146 PMID:27226556 PMID:27699752 PMID:28323383 PMID:28347726 PMID:28492532 PMID:29158550 PMID:29402968 PMID:29734338 PMID:30105547 PMID:30266093 PMID:30293990 PMID:30712878 PMID:30732632 PMID:30898653 PMID:31040167 PMID:31219622 PMID:31292302 PMID:31355538 PMID:32304219 PMID:32396283 PMID:32766847 PMID:32860008 PMID:33128510 PMID:33144663 PMID:33190430 PMID:33258288 PMID:33452774 PMID:33794220 PMID:34008892 PMID:34237269 PMID:34306696 PMID:34358384 PMID:35418694 PMID:36274670 PMID:7109146 PMID:8462668


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