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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking GJA3 and cataract in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Yoshida M, etal., Pathol Int. 2005 Nov;55(11):732-7.
  • The annotation has been inferred from sequence orthology with Gja3 (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Yoshida M, etal., Pathol Int. 2005 Nov;55(11):732-7.
  • 644 RGD objects have been annotated to cataract  (DOID:83)
  • 7 papers in RGD have been used to annotate GJA3
  • Curation Notes: DNA:missense mutation


    • An association has been curated linking GJA3 and cataract 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:10766560 (Homo sapiens)
  • 644 RGD objects have been annotated to cataract  (DOID:83)
  • 7 papers in RGD have been used to annotate GJA3
  • Curation Notes: ClinVar Annotator: match by term: Congenital cataract
  • Original References(s): PMID:16885921 PMID:22843197 PMID:25741868 PMID:26694549 PMID:29934635


    • An association has been curated linking GJA3 and cataract 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:12912030 (Homo sapiens)
  • 644 RGD objects have been annotated to cataract  (DOID:83)
  • 7 papers in RGD have been used to annotate GJA3
  • Curation Notes: ClinVar Annotator: match by term: Congenital cataract
  • Original References(s): PMID:25741868 PMID:28839118


    • An association has been curated linking GJA3 and cataract 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:10766564 (Homo sapiens)
  • 644 RGD objects have been annotated to cataract  (DOID:83)
  • 7 papers in RGD have been used to annotate GJA3
  • Curation Notes: ClinVar Annotator: match by term: Congenital cataract
  • Original References(s): PMID:17615540 PMID:25741868 PMID:26694549


    • An association has been curated linking GJA3 and cataract 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:10766552 (Homo sapiens)
  • 644 RGD objects have been annotated to cataract  (DOID:83)
  • 7 papers in RGD have been used to annotate GJA3
  • Curation Notes: ClinVar Annotator: match by term: Congenital cataract
  • Original References(s): PMID:15208569 PMID:19182255 PMID:21866213 PMID:25148791 PMID:25741868 PMID:26694549 PMID:27609163 PMID:28492532 PMID:34169787 PMID:36161833


    • An association has been curated linking GJA3 and cataract 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:150529977 (Homo sapiens)
  • 644 RGD objects have been annotated to cataract  (DOID:83)
  • 7 papers in RGD have been used to annotate GJA3
  • Curation Notes: ClinVar Annotator: match by term: Congenital cataract
  • Original References(s): PMID:25741868 PMID:36161833


    • An association has been curated linking GJA3 and cataract 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:12912028 (Homo sapiens)
  • 644 RGD objects have been annotated to cataract  (DOID:83)
  • 7 papers in RGD have been used to annotate GJA3
  • Curation Notes: ClinVar Annotator: match by term: Congenital cataract
  • Original References(s): PMID:21031021 PMID:25741868 PMID:28839118 PMID:29461512 PMID:36161833


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