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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking PCDH15 and fundus dystrophy 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:11345571 (Homo sapiens)
  • 1017 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 9 papers in RGD have been used to annotate PCDH15
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:27208204 PMID:28492532


    • An association has been curated linking PCDH15 and fundus dystrophy 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:11345553 (Homo sapiens)
  • 1017 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 9 papers in RGD have been used to annotate PCDH15
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25741868 PMID:27208204 PMID:28492532


    • An association has been curated linking PCDH15 and fundus dystrophy 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:12739728 (Homo sapiens)
  • 1017 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 9 papers in RGD have been used to annotate PCDH15
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11398101 PMID:11487575 PMID:14570705 PMID:22815625 PMID:23451239 PMID:25741868 PMID:27743452 PMID:28492532 PMID:30311386 PMID:30459346


    • An association has been curated linking PCDH15 and fundus dystrophy 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:11644985|RGD:12743311|RGD:26909970 (Homo sapiens) & RGD:11644985|RGD:12743311|RGD:26909970 (Homo sapiens) & RGD:11644985|RGD:12743311|RGD:26909970 (Homo sapiens)
  • 1017 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 9 papers in RGD have been used to annotate PCDH15
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy


    • An association has been curated linking PCDH15 and fundus dystrophy 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:13784359 (Homo sapiens)
  • 1017 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 9 papers in RGD have been used to annotate PCDH15
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:11398101 PMID:11487575 PMID:14570705 PMID:25741868 PMID:26791358 PMID:28492532


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