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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PCDH15 and Usher syndrome type 1G 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:8558376 (Homo sapiens)
  • 3 RGD objects have been annotated to Usher syndrome type 1G  (DOID:0110834)
  • 9 papers in RGD have been used to annotate PCDH15
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 1G
  • Original References(s): PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:20301442 PMID:22815625 PMID:24033266 PMID:24105371 PMID:25262649 PMID:25307757 PMID:25525159 PMID:25741868 PMID:27460420 PMID:28492532


  • An association has been curated linking PCDH15 and Usher syndrome type 1G 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:8573350 (Homo sapiens)
  • 3 RGD objects have been annotated to Usher syndrome type 1G  (DOID:0110834)
  • 9 papers in RGD have been used to annotate PCDH15
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 1G
  • Original References(s): PMID:12588794 PMID:20301442


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