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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Polr1c and Treacher Collins syndrome 3 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 POLR1C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Treacher Collins syndrome 3  (DOID:0080791)
  • 12 papers in RGD have been used to annotate Polr1c


  • An association has been curated linking Polr1c and Treacher Collins syndrome 3 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with POLR1C (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Treacher Collins syndrome 3  (DOID:0080791)
  • 12 papers in RGD have been used to annotate Polr1c
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Polr1c and Treacher Collins syndrome 3 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 POLR1C (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Treacher Collins syndrome 3  (DOID:0080791)
  • 12 papers in RGD have been used to annotate Polr1c
  • Curation Notes: ClinVar Annotator: match by term: POLR1C-Related Disorders | ClinVar Annotator: match by term: Treacher Collins Syndrome, Recessive | ClinVar Annotator: match by term: Treacher Collins syndrome 3
  • Original References(s): PMID:11013442 PMID:17576681 PMID:21131976 PMID:22563501 PMID:22855961 PMID:24942156 PMID:25741868 PMID:26151409 PMID:26467025 PMID:28327206 PMID:28492532 PMID:29567474 PMID:29644095 PMID:30311386 PMID:30957429 PMID:31019026 PMID:32042905 PMID:33597727 PMID:33804237 PMID:33888711 PMID:34645491 PMID:610060 PMID:9536098


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