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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking KIF14 and Joubert 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:151741699 (Homo sapiens)
  • 488 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 5 papers in RGD have been used to annotate KIF14
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:16199547 PMID:23308235 PMID:25741868 PMID:28492532 PMID:29343805 PMID:30388224


    • An association has been curated linking KIF14 and Joubert 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:155741316|RGD:156451288|RGD:156451289|RGD:243056628 (Homo sapiens) & RGD:155741316|RGD:156451288|RGD:156451289|RGD:243056628 (Homo sapiens) & RGD:155741316|RGD:156451288|RGD:156451289|RGD:243056628 (Homo sapiens) & RGD:155741316|RGD:156451288|RGD:156451289|RGD:243056628 (Homo sapiens)
  • 488 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 5 papers in RGD have been used to annotate KIF14
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders


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