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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking PDZD7 and Usher syndrome type 2A in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 11 RGD objects have been annotated to Usher syndrome type 2A  (DOID:0110838)
  • 6 papers in RGD have been used to annotate PDZD7


    • An association has been curated linking PDZD7 and Usher syndrome type 2A 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:8602384 (Homo sapiens)
  • 11 RGD objects have been annotated to Usher syndrome type 2A  (DOID:0110838)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 2A
  • Original References(s): PMID:20440071 PMID:28492532 PMID:29048736


    • An association has been curated linking PDZD7 and Usher syndrome type 2A 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:8606942 (Homo sapiens)
  • 11 RGD objects have been annotated to Usher syndrome type 2A  (DOID:0110838)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA
  • Original References(s): PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532


    • An association has been curated linking PDZD7 and Usher syndrome type 2A in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 11 RGD objects have been annotated to Usher syndrome type 2A  (DOID:0110838)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking PDZD7 and Usher syndrome type 2A 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:13796247 (Homo sapiens)
  • 11 RGD objects have been annotated to Usher syndrome type 2A  (DOID:0110838)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 2A
  • Original References(s): PMID:20440071 PMID:25741868 PMID:28492532


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