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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Sos1 and pulmonary valve stenosis in Mus musculus.        

  • 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 SOS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 100 RGD objects have been annotated to pulmonary valve stenosis  (DOID:6420)
  • 26 papers in RGD have been used to annotate Sos1
  • Curation Notes: ClinVar Annotator: match by term: Pulmonic stenosis
  • Original References(s): PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489


    • An association has been curated linking Sos1 and pulmonary valve stenosis in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Roberts AE, etal., Nat Genet. 2007 Jan;39(1):70-4. Epub 2006 Dec 3.
  • The annotation has been inferred from sequence orthology with SOS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 additional annotations were made from Roberts AE, etal., Nat Genet. 2007 Jan;39(1):70-4. Epub 2006 Dec 3.
  • 100 RGD objects have been annotated to pulmonary valve stenosis  (DOID:6420)
  • 26 papers in RGD have been used to annotate Sos1
  • Curation Notes: associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple (human)


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