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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Polr1a and acrofacial dysostosis Cincinnati type in Mus musculus.        

  • 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 POLR1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to acrofacial dysostosis Cincinnati type  (DOID:0060353)
  • 10 papers in RGD have been used to annotate Polr1a


    • An association has been curated linking Polr1a and acrofacial dysostosis Cincinnati type 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 POLR1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to acrofacial dysostosis Cincinnati type  (DOID:0060353)
  • 10 papers in RGD have been used to annotate Polr1a
  • Curation Notes: ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition
  • Original References(s): PMID:17576681 PMID:25741868 PMID:25913037 PMID:28051070 PMID:28492532 PMID:34341987 PMID:37075751 PMID:9536098


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