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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking COL12A1 and Ullrich congenital muscular dystrophy in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with RGD:13528139 (Homo sapiens)
  • 4 RGD objects have been annotated to Ullrich congenital muscular dystrophy  (DOID:0050558)
  • 0 papers in RGD have been used to annotate COL12A1
  • Curation Notes: ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy
  • Original References(s): PMID:25741868


  • An association has been curated linking COL12A1 and Ullrich congenital muscular dystrophy in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with COL12A1 (Homo sapiens)
  • 4 RGD objects have been annotated to Ullrich congenital muscular dystrophy  (DOID:0050558)
  • 0 papers in RGD have been used to annotate COL12A1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking COL12A1 and Ullrich congenital muscular dystrophy in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with RGD:13704773 (Homo sapiens)
  • 4 RGD objects have been annotated to Ullrich congenital muscular dystrophy  (DOID:0050558)
  • 0 papers in RGD have been used to annotate COL12A1
  • Curation Notes: ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking COL12A1 and Ullrich congenital muscular dystrophy in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with RGD:14702674 (Homo sapiens)
  • 4 RGD objects have been annotated to Ullrich congenital muscular dystrophy  (DOID:0050558)
  • 0 papers in RGD have been used to annotate COL12A1
  • Curation Notes: ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy
  • Original References(s): PMID:25741868


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