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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking LOC126862586 and osteogenesis imperfecta type 2 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:12911256 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 0 papers in RGD have been used to annotate LOC126862586
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA
  • Original References(s): PMID:12362985 PMID:17078022 PMID:19344236 PMID:21667357 PMID:22206639 PMID:23692737 PMID:25741868 PMID:25944380 PMID:26467025 PMID:26627451 PMID:27509835 PMID:27748872 PMID:28492532 PMID:31447884 PMID:7695699 PMID:8218237 PMID:8613526 PMID:9016532


    • An association has been curated linking LOC126862586 and osteogenesis imperfecta type 2 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:8600473 (Homo sapiens)
  • 4 RGD objects have been annotated to osteogenesis imperfecta type 2  (DOID:0110341)
  • 0 papers in RGD have been used to annotate LOC126862586
  • Curation Notes: ClinVar Annotator: match by term: Osteogenesis imperfecta, recessive perinatal lethal
  • Original References(s): PMID:9295084


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