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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking KCNK9 and Birk-Barel syndrome 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:40814693 (Homo sapiens)
  • 3 RGD objects have been annotated to Birk-Barel syndrome  (DOID:0050675)
  • 6 papers in RGD have been used to annotate KCNK9
  • Curation Notes: ClinVar Annotator: match by term: Birk-Barel syndrome
  • Original References(s): PMID:25741868 PMID:30690205


    • An association has been curated linking KCNK9 and Birk-Barel syndrome 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:12854318 (Homo sapiens)
  • 3 RGD objects have been annotated to Birk-Barel syndrome  (DOID:0050675)
  • 6 papers in RGD have been used to annotate KCNK9
  • Curation Notes: ClinVar Annotator: match by term: Birk-Barel syndrome
  • Original References(s): PMID:18678320


    • An association has been curated linking KCNK9 and Birk-Barel syndrome in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to Birk-Barel syndrome  (DOID:0050675)
  • 6 papers in RGD have been used to annotate KCNK9


    • An association has been curated linking KCNK9 and Birk-Barel syndrome 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:12742571 (Homo sapiens)
  • 3 RGD objects have been annotated to Birk-Barel syndrome  (DOID:0050675)
  • 6 papers in RGD have been used to annotate KCNK9
  • Curation Notes: ClinVar Annotator: match by term: Birk-Barel syndrome
  • Original References(s): PMID:25326635 PMID:25741868 PMID:29165669 PMID:35698242


    • An association has been curated linking KCNK9 and Birk-Barel syndrome 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
  • 3 RGD objects have been annotated to Birk-Barel syndrome  (DOID:0050675)
  • 6 papers in RGD have been used to annotate KCNK9
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking KCNK9 and Birk-Barel syndrome 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:8558258 (Homo sapiens)
  • 3 RGD objects have been annotated to Birk-Barel syndrome  (DOID:0050675)
  • 6 papers in RGD have been used to annotate KCNK9
  • Curation Notes: ClinVar Annotator: match by term: Birk-Barel syndrome
  • Original References(s): PMID:18678320 PMID:23236211 PMID:25741868 PMID:25741915 PMID:27151206 PMID:28333430 PMID:28882594 PMID:30690205 PMID:35698242


    • An association has been curated linking KCNK9 and Birk-Barel syndrome 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:11665659|RGD:13472646|RGD:405082289|RGD:40903573 (Homo sapiens) & RGD:11665659|RGD:13472646|RGD:405082289|RGD:40903573 (Homo sapiens) & RGD:11665659|RGD:13472646|RGD:405082289|RGD:40903573 (Homo sapiens) & RGD:11665659|RGD:13472646|RGD:405082289|RGD:40903573 (Homo sapiens)
  • 3 RGD objects have been annotated to Birk-Barel syndrome  (DOID:0050675)
  • 6 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


    • An association has been curated linking KCNK9 and Birk-Barel syndrome 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:126741804|RGD:14695881|RGD:150548948|RGD:40815539 (Homo sapiens) & RGD:126741804|RGD:14695881|RGD:150548948|RGD:40815539 (Homo sapiens) & RGD:126741804|RGD:14695881|RGD:150548948|RGD:40815539 (Homo sapiens) & RGD:126741804|RGD:14695881|RGD:150548948|RGD:40815539 (Homo sapiens)
  • 3 RGD objects have been annotated to Birk-Barel syndrome  (DOID:0050675)
  • 6 papers in RGD have been used to annotate KCNK9
  • Curation Notes: ClinVar Annotator: match by term: Birk-Barel syndrome
  • Original References(s): PMID:25741868


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