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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Gjb6 and Clouston syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with GJB6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to Clouston syndrome  (DOID:14693)
  • 34 papers in RGD have been used to annotate Gjb6


    • An association has been curated linking Gjb6 and Clouston syndrome in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Gjb6 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to Clouston syndrome  (DOID:14693)
  • 34 papers in RGD have been used to annotate Gjb6
  • Curation Notes: OMIM:129500


    • An association has been curated linking Gjb6 and Clouston 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 GJB6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to Clouston syndrome  (DOID:14693)
  • 34 papers in RGD have been used to annotate Gjb6
  • Curation Notes: ClinVar Annotator: match by term: Clouston's hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome
  • Original References(s): PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11874494 PMID:11896458 PMID:12419304 PMID:12788524 PMID:14708603 PMID:15213106 PMID:15769851 PMID:16547895 PMID:16950989 PMID:17160938 PMID:17259707 PMID:17666888 PMID:18717672 PMID:19723508 PMID:20536673 PMID:21731760 PMID:22106692 PMID:22617145 PMID:23219093 PMID:23757202 PMID:23863883 PMID:23926005 PMID:23981984 PMID:24033266 PMID:24052723 PMID:24514865 PMID:24522190 PMID:24685692 PMID:25214170 PMID:25262649 PMID:25741868 PMID:26551294 PMID:27068579 PMID:27137747 PMID:27480936 PMID:27817781 PMID:28492532 PMID:29739340 PMID:29771057 PMID:30620052 PMID:31015822 PMID:31589614 PMID:35062939


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