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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pten and Macrocephaly in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Busa T, etal., Gene. 2013 Jan 10;512(2):194-7. doi: 10.1016/j.gene.2012.09.134. Epub 2012 Nov 2.
  • The annotation has been inferred from sequence orthology with PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Busa T, etal., Gene. 2013 Jan 10;512(2):194-7. doi: 10.1016/j.gene.2012.09.134. Epub 2012 Nov 2.
  • 87 RGD objects have been annotated to Macrocephaly  (DOID:9003816)
  • 165 papers in RGD have been used to annotate Pten
  • Curation Notes: DNA:missense mutation:cds:p.M134I (human)


    • An association has been curated linking Pten and Macrocephaly 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 87 RGD objects have been annotated to Macrocephaly  (DOID:9003816)
  • 165 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly
  • Original References(s): PMID:10772390 PMID:21828076 PMID:25741868 PMID:28492532


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