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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking COL1A2 and dentinogenesis imperfecta in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12911355 (Homo sapiens)
  • 21 RGD objects have been annotated to dentinogenesis imperfecta  (DOID:4154)
  • 28 papers in RGD have been used to annotate COL1A2
  • Curation Notes: ClinVar Annotator: match by term: Dentinogenesis imperfecta
  • Original References(s): PMID:17078022 PMID:19344236 PMID:23227268 PMID:25741868 PMID:25944380 PMID:27510842 PMID:28492532 PMID:30152103 PMID:30886339 PMID:7695699 PMID:8218237 PMID:9016532


    • An association has been curated linking COL1A2 and dentinogenesis imperfecta in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13704971 (Homo sapiens)
  • 21 RGD objects have been annotated to dentinogenesis imperfecta  (DOID:4154)
  • 28 papers in RGD have been used to annotate COL1A2
  • Curation Notes: ClinVar Annotator: match by term: Dentinogenesis imperfecta
  • Original References(s): PMID:16705691 PMID:17078022 PMID:19344236 PMID:26177859 PMID:26788535 PMID:28492532 PMID:30715774 PMID:31429852 PMID:7695699 PMID:8218237 PMID:9016532


    • An association has been curated linking COL1A2 and dentinogenesis imperfecta in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:150534423 (Homo sapiens)
  • 21 RGD objects have been annotated to dentinogenesis imperfecta  (DOID:4154)
  • 28 papers in RGD have been used to annotate COL1A2
  • Curation Notes: ClinVar Annotator: match by term: Dentinogenesis imperfecta
  • Original References(s): PMID:17078022 PMID:19344236 PMID:28492532 PMID:7695699 PMID:8218237 PMID:9016532


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