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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking USH2A and blindness 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:8556761 (Homo sapiens)
  • 281 RGD objects have been annotated to blindness  (DOID:1432)
  • 21 papers in RGD have been used to annotate USH2A
  • Curation Notes: ClinVar Annotator: match by term: Legal blindness
  • Original References(s): PMID:15015129 PMID:15043528 PMID:15241801 PMID:15325563 PMID:16963483 PMID:18273898 PMID:20513143 PMID:21569298 PMID:24033266 PMID:24498627 PMID:24944099 PMID:25575603 PMID:25741868 PMID:26927203 PMID:27460420 PMID:28492532


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