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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking ABCB6 and coloboma 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:15133099|RGD:15175682|RGD:41405144 (Homo sapiens) & RGD:15133099|RGD:15175682|RGD:41405144 (Homo sapiens) & RGD:15133099|RGD:15175682|RGD:41405144 (Homo sapiens)
  • 149 RGD objects have been annotated to coloboma  (DOID:12270)
  • 6 papers in RGD have been used to annotate ABCB6
  • Curation Notes: ClinVar Annotator: match by term: Congenital ocular coloboma | ClinVar Annotator: match by term: ocular coloboma
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking ABCB6 and coloboma 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:10449567 (Homo sapiens)
  • 149 RGD objects have been annotated to coloboma  (DOID:12270)
  • 6 papers in RGD have been used to annotate ABCB6
  • Curation Notes: ClinVar Annotator: match by term: ocular coloboma
  • Original References(s): PMID:15142123 PMID:23180570 PMID:25741868 PMID:2998465


    • An association has been curated linking ABCB6 and coloboma 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:150482472 (Homo sapiens)
  • 149 RGD objects have been annotated to coloboma  (DOID:12270)
  • 6 papers in RGD have been used to annotate ABCB6
  • Curation Notes: ClinVar Annotator: match by term: ocular coloboma
  • Original References(s): PMID:25741868


    • An association has been curated linking ABCB6 and coloboma 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:8624257 (Homo sapiens)
  • 149 RGD objects have been annotated to coloboma  (DOID:12270)
  • 6 papers in RGD have been used to annotate ABCB6
  • Curation Notes: ClinVar Annotator: match by term: ocular coloboma
  • Original References(s): PMID:24281366 PMID:25741868 PMID:28492532


    • An association has been curated linking ABCB6 and coloboma 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:15175682 (Homo sapiens)
  • 149 RGD objects have been annotated to coloboma  (DOID:12270)
  • 6 papers in RGD have been used to annotate ABCB6
  • Curation Notes: ClinVar Annotator: match by term: ocular coloboma
  • Original References(s): PMID:25741868 PMID:27151991 PMID:28492532 PMID:28971506 PMID:30187933 PMID:34201899


    • An association has been curated linking ABCB6 and coloboma 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:41405144 (Homo sapiens)
  • 149 RGD objects have been annotated to coloboma  (DOID:12270)
  • 6 papers in RGD have been used to annotate ABCB6
  • Curation Notes: ClinVar Annotator: match by term: ocular coloboma
  • Original References(s): PMID:25741868 PMID:28492532 PMID:34201899


    • An association has been curated linking ABCB6 and coloboma 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:15133099 (Homo sapiens)
  • 149 RGD objects have been annotated to coloboma  (DOID:12270)
  • 6 papers in RGD have been used to annotate ABCB6
  • Curation Notes: ClinVar Annotator: match by term: ocular coloboma
  • Original References(s): PMID:25741868 PMID:28492532


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