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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking KCNK9 and Birk-Barel syndrome in Pan paniscus.        

  • 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 KCNK9 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Birk-Barel syndrome  (DOID:0050675)
  • 0 papers in RGD have been used to annotate KCNK9
  • Curation Notes: ClinVar Annotator: match by term: Birk-Barel Intellectual Disability Dysmorphism Syndrome | ClinVar Annotator: match by term: Birk-Barel syndrome
  • Original References(s): PMID:18678320 PMID:23236211 PMID:25326635 PMID:25741868 PMID:27151206 PMID:28333430 PMID:28882594 PMID:29165669 PMID:30690205 PMID:35698242


    • An association has been curated linking KCNK9 and Birk-Barel syndrome in Pan paniscus.        

  • 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 KCNK9 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Birk-Barel syndrome  (DOID:0050675)
  • 0 papers in RGD have been used to annotate KCNK9


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