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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Col1a2 and osteogenesis imperfecta type 3 in Ictidomys tridecemlineatus.        

  • 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]
  • 11 RGD objects have been annotated to osteogenesis imperfecta type 3  (DOID:0110339)
  • 0 papers in RGD have been used to annotate Col1a2


    • An association has been curated linking Col1a2 and osteogenesis imperfecta type 3 in Ictidomys tridecemlineatus.        

  • 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]
  • 11 RGD objects have been annotated to osteogenesis imperfecta type 3  (DOID:0110339)
  • 0 papers in RGD have been used to annotate Col1a2
  • Curation Notes: ClinVar Annotator: match by term: OI type III | ClinVar Annotator: match by term: Osteogenesis imperfecta type III
  • Original References(s): PMID:10807697 PMID:15241796 PMID:16705691 PMID:16786509 PMID:17078022 PMID:19208385 PMID:19344236 PMID:2052622 PMID:2064612 PMID:21488294 PMID:21520333 PMID:21667357 PMID:22206639 PMID:22589248 PMID:23934635 PMID:24033266 PMID:24501682 PMID:24668929 PMID:24863959 PMID:25326635 PMID:25326637 PMID:25450603 PMID:25741868 PMID:25944380 PMID:26138843 PMID:26177859 PMID:26307460 PMID:26371943 PMID:26432670 PMID:26467025 PMID:26604951 PMID:26627451 PMID:27510842 PMID:27519266 PMID:27748872 PMID:2824475 PMID:28492532 PMID:28498836 PMID:28810924 PMID:29150909 PMID:3023615 PMID:30715774 PMID:30821104 PMID:31447884 PMID:31794058 PMID:32659730 PMID:32770541 PMID:3995789 PMID:4795106 PMID:6092353 PMID:7695699 PMID:7749416 PMID:7860070 PMID:7881420 PMID:8081394 PMID:8094076 PMID:8218237 PMID:8728690 PMID:8829649 PMID:9016532 PMID:9099837 PMID:9143923 PMID:9272740 PMID:9594376


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