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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking USH2A and Usher syndrome type 1 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:8611369 (Homo sapiens)
  • 17 RGD objects have been annotated to Usher syndrome type 1  (DOID:0110826)
  • 21 papers in RGD have been used to annotate USH2A
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 1
  • Original References(s): PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26927203 PMID:28041643 PMID:28492532 PMID:30245029


  • An association has been curated linking USH2A and Usher syndrome type 1 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:11090581 (Homo sapiens)
  • 17 RGD objects have been annotated to Usher syndrome type 1  (DOID:0110826)
  • 21 papers in RGD have been used to annotate USH2A
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 1
  • Original References(s): PMID:21569298 PMID:25741868 PMID:26667666 PMID:28492532 PMID:28559085 PMID:32531858 PMID:34906470


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