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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Pcdh15 and Usher syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
  • The annotation has been inferred from sequence orthology with PCDH15 (Homo sapiens) [(TAS) traceable author statement]
  • 86 additional annotations were made from Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
  • 68 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 11 papers in RGD have been used to annotate Pcdh15


    • An association has been curated linking Pcdh15 and Usher syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PCDH15 (Homo sapiens) [(EXP) inferred from experiment]
  • 68 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 11 papers in RGD have been used to annotate Pcdh15
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:19309154


    • An association has been curated linking Pcdh15 and Usher syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with PCDH15 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 68 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 11 papers in RGD have been used to annotate Pcdh15
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
  • Original References(s): PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:17576681 PMID:20301442 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24831256 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27460420 PMID:27861356 PMID:28041643 PMID:28281779 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:9536098


    • An association has been curated linking Pcdh15 and Usher syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with PCDH15 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 68 RGD objects have been annotated to Usher syndrome  (DOID:0050439)
  • 11 papers in RGD have been used to annotate Pcdh15
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
  • Original References(s): PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 PMID:15537665 PMID:15660226 PMID:16679490 PMID:16963483 PMID:17576681 PMID:18484607 PMID:19375528 PMID:20301442 PMID:20672374 PMID:21569298 PMID:22135276 PMID:22183965 PMID:22815625 PMID:23967202 PMID:24033266 PMID:24105371 PMID:24164807 PMID:24498627 PMID:24618850 PMID:24831256 PMID:24940003 PMID:25262649 PMID:25307757 PMID:25468891 PMID:25525159 PMID:25741868 PMID:25741898 PMID:26166082 PMID:26467025 PMID:26791358 PMID:27058588 PMID:27440999 PMID:27460420 PMID:27861356 PMID:28041643 PMID:28281779 PMID:28492532 PMID:28847902 PMID:30245029 PMID:30311386 PMID:30718709 PMID:33576794 PMID:34416374 PMID:9536098


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