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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking EDNRB and Waardenburg 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:8600280 (Homo sapiens)
  • 6 RGD objects have been annotated to Waardenburg syndrome type 2A  (DOID:0110950)
  • 36 papers in RGD have been used to annotate EDNRB
  • Curation Notes: ClinVar Annotator: match by term: Waardenburg syndrome type 2A
  • Original References(s): PMID:10090908 PMID:10874640 PMID:16145050 PMID:16954478 PMID:19320733 PMID:20009762 PMID:21507037 PMID:22993632 PMID:22995991 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27535533 PMID:28492532 PMID:29407415 PMID:8852659


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