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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking USH1C and Usher syndrome type 2 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:38464448 (Homo sapiens)
  • 31 RGD objects have been annotated to Usher syndrome type 2  (DOID:0110827)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 2
  • Original References(s): PMID:25741868


    • An association has been curated linking USH1C and Usher syndrome type 2 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:12905460 (Homo sapiens)
  • 31 RGD objects have been annotated to Usher syndrome type 2  (DOID:0110827)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 2
  • Original References(s): PMID:10973247 PMID:17407589 PMID:20301442 PMID:21203349 PMID:25741868 PMID:28492532 PMID:32531858


    • An association has been curated linking USH1C and Usher syndrome type 2 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:38464454 (Homo sapiens)
  • 31 RGD objects have been annotated to Usher syndrome type 2  (DOID:0110827)
  • 17 papers in RGD have been used to annotate USH1C
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 2
  • Original References(s): PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 PMID:25741868 PMID:27460420 PMID:28492532 PMID:30311386 PMID:32531858


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