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GENE - TERM ANNOTATION REPORT

10 Annotations Found.

An association has been curated linking PDZD7 and Usher syndrome type 2C 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:8568716 (Homo sapiens)
  • 18 RGD objects have been annotated to Usher syndrome type 2C  (DOID:0110839)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
  • Original References(s): PMID:20440071


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

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 18 RGD objects have been annotated to Usher syndrome type 2C  (DOID:0110839)
  • 6 papers in RGD have been used to annotate PDZD7


    • An association has been curated linking PDZD7 and Usher syndrome type 2C 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:126756960 (Homo sapiens)
  • 18 RGD objects have been annotated to Usher syndrome type 2C  (DOID:0110839)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
  • Original References(s): PMID:28492532


    • An association has been curated linking PDZD7 and Usher syndrome type 2C 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:8609065 (Homo sapiens)
  • 18 RGD objects have been annotated to Usher syndrome type 2C  (DOID:0110839)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 2C
  • Original References(s): PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking PDZD7 and Usher syndrome type 2C 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)
  • 18 RGD objects have been annotated to Usher syndrome type 2C  (DOID:0110839)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
  • Original References(s): PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532


    • An association has been curated linking PDZD7 and Usher syndrome type 2C 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:150543195 (Homo sapiens)
  • 18 RGD objects have been annotated to Usher syndrome type 2C  (DOID:0110839)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 2C
  • Original References(s): PMID:20440071 PMID:25741868 PMID:28492532 PMID:32050993


    • An association has been curated linking PDZD7 and Usher syndrome type 2C 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
  • 18 RGD objects have been annotated to Usher syndrome type 2C  (DOID:0110839)
  • 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 2C 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:10052987|RGD:11550193|RGD:126768662|RGD:151836313|RGD:26915264 (Homo sapiens) & RGD:10052987|RGD:11550193|RGD:126768662|RGD:151836313|RGD:26915264 (Homo sapiens) & RGD:10052987|RGD:11550193|RGD:126768662|RGD:151836313|RGD:26915264 (Homo sapiens) & RGD:10052987|RGD:11550193|RGD:126768662|RGD:151836313|RGD:26915264 (Homo sapiens) & RGD:10052987|RGD:11550193|RGD:126768662|RGD:151836313|RGD:26915264 (Homo sapiens)
  • 18 RGD objects have been annotated to Usher syndrome type 2C  (DOID:0110839)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 2C
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking PDZD7 and Usher syndrome type 2C 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:126737223|RGD:14732739|RGD:150455927 (Homo sapiens) & RGD:126737223|RGD:14732739|RGD:150455927 (Homo sapiens) & RGD:126737223|RGD:14732739|RGD:150455927 (Homo sapiens)
  • 18 RGD objects have been annotated to Usher syndrome type 2C  (DOID:0110839)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 2C
  • Original References(s): PMID:25741868


    • An association has been curated linking PDZD7 and Usher syndrome type 2C 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:14704597|RGD:14705112|RGD:8606945|RGD:8606950|RGD:8609070 (Homo sapiens) & RGD:14704597|RGD:14705112|RGD:8606945|RGD:8606950|RGD:8609070 (Homo sapiens) & RGD:14704597|RGD:14705112|RGD:8606945|RGD:8606950|RGD:8609070 (Homo sapiens) & RGD:14704597|RGD:14705112|RGD:8606945|RGD:8606950|RGD:8609070 (Homo sapiens) & RGD:14704597|RGD:14705112|RGD:8606945|RGD:8606950|RGD:8609070 (Homo sapiens)
  • 18 RGD objects have been annotated to Usher syndrome type 2C  (DOID:0110839)
  • 6 papers in RGD have been used to annotate PDZD7
  • Curation Notes: ClinVar Annotator: match by term: Usher syndrome type 2C
  • Original References(s): PMID:24033266 PMID:25741868 PMID:28492532


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