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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Acvr1 and fibrodysplasia ossificans progressiva in Rattus norvegicus.        

  • 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 ACVR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to fibrodysplasia ossificans progressiva  (DOID:13374)
  • 29 papers in RGD have been used to annotate Acvr1


    • An association has been curated linking Acvr1 and fibrodysplasia ossificans progressiva in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kou S, etal., Orphanet J Rare Dis. 2020 Jul 29;15(1):193. doi: 10.1186/s13023-020-01465-x.
  • The annotation has been inferred from sequence orthology with ACVR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Kou S, etal., Orphanet J Rare Dis. 2020 Jul 29;15(1):193. doi: 10.1186/s13023-020-01465-x.
  • 4 RGD objects have been annotated to fibrodysplasia ossificans progressiva  (DOID:13374)
  • 29 papers in RGD have been used to annotate Acvr1
  • Curation Notes: DNA:mutation:cds:R206H


    • An association has been curated linking Acvr1 and fibrodysplasia ossificans progressiva in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kaplan FS, etal., Am J Med Genet A. 2015 Oct;167A(10):2265-71. doi: 10.1002/ajmg.a.37205. Epub 2015 Jun 11.
  • The annotation has been inferred from sequence orthology with ACVR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kaplan FS, etal., Am J Med Genet A. 2015 Oct;167A(10):2265-71. doi: 10.1002/ajmg.a.37205. Epub 2015 Jun 11.
  • 4 RGD objects have been annotated to fibrodysplasia ossificans progressiva  (DOID:13374)
  • 29 papers in RGD have been used to annotate Acvr1
  • Curation Notes: DNA:mutation:CDS:c.772A>G, R258G


    • An association has been curated linking Acvr1 and fibrodysplasia ossificans progressiva 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 ACVR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to fibrodysplasia ossificans progressiva  (DOID:13374)
  • 29 papers in RGD have been used to annotate Acvr1
  • Curation Notes: ClinVar Annotator: match by term: Progressive myositis ossificans
  • Original References(s): PMID:10441661 PMID:16642017 PMID:17077940 PMID:17272450 PMID:17351709 PMID:17576681 PMID:18203193 PMID:18684712 PMID:18830232 PMID:18952055 PMID:19085907 PMID:19330033 PMID:21044902 PMID:21377447 PMID:21525719 PMID:21567927 PMID:22351757 PMID:22508565 PMID:22977237 PMID:23302548 PMID:23653868 PMID:24051199 PMID:24259422 PMID:24705251 PMID:25326637 PMID:25741868 PMID:25741915 PMID:26058333 PMID:26619011 PMID:28492532 PMID:29307777 PMID:29482508 PMID:30379592 PMID:31012264 PMID:33973349 PMID:35511419 PMID:5033743 PMID:7068725 PMID:818090 PMID:9536098


    • An association has been curated linking Acvr1 and fibrodysplasia ossificans progressiva in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Acvr1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 4 RGD objects have been annotated to fibrodysplasia ossificans progressiva  (DOID:13374)
  • 29 papers in RGD have been used to annotate Acvr1
  • Curation Notes: OMIM:135100


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