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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking SOS1 and Pulmonic stenosis 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:8608190 (Homo sapiens)
  • 425 RGD objects have been annotated to Pulmonic stenosis  (HP:0001642)
  • 29 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 Pulmonic stenosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Lee BH, etal., J Pediatr. 2011 Dec;159(6):1029-35. doi: 10.1016/j.jpeds.2011.05.024. Epub 2011 Jul 23.
  • 425 RGD objects have been annotated to Pulmonic stenosis  (HP:0001642)
  • 29 papers in RGD have been used to annotate SOS1
  • Curation Notes: DNA:missense mutations:CDS:multiple


    • An association has been curated linking SOS1 and Pulmonic stenosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Roberts AE, etal., Nat Genet. 2007 Jan;39(1):70-4. Epub 2006 Dec 3.
  • 10 additional annotations were made from Roberts AE, etal., Nat Genet. 2007 Jan;39(1):70-4. Epub 2006 Dec 3.
  • 425 RGD objects have been annotated to Pulmonic stenosis  (HP:0001642)
  • 29 papers in RGD have been used to annotate SOS1
  • Curation Notes: associated with Noonan Syndrome;DNA:missense mutations:CDS:multiple


    • An association has been curated linking SOS1 and Pulmonic stenosis in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 425 RGD objects have been annotated to Pulmonic stenosis  (HP:0001642)
  • 29 papers in RGD have been used to annotate SOS1
  • Original References(s): OMIM:610733


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