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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Col1a2 and Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 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 COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2  (DOID:9007779)
  • 34 papers in RGD have been used to annotate Col1a2


    • An association has been curated linking Col1a2 and Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 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 COL1A2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2  (DOID:9007779)
  • 34 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ClinVar Annotator: match by term: OIEDS SYNDROME 2
  • Original References(s): PMID:10027910 PMID:10694924 PMID:10982177 PMID:11288717 PMID:11317364 PMID:16705691 PMID:17078022 PMID:17576681 PMID:18311573 PMID:18996919 PMID:19344236 PMID:21520333 PMID:21667357 PMID:22589248 PMID:23692737 PMID:25146735 PMID:25741868 PMID:25944380 PMID:26177859 PMID:26371943 PMID:26432670 PMID:26467025 PMID:27056980 PMID:27510842 PMID:28378289 PMID:28492532 PMID:29150909 PMID:30715774 PMID:30821104 PMID:31794058 PMID:34422331 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098


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