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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking NPHP3-ACAD11 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:13470359 (Homo sapiens)
  • 489 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 2 papers in RGD have been used to annotate NPHP3-ACAD11
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:23559409 PMID:25741868 PMID:26184788 PMID:28492532 PMID:32173348 PMID:33323469 PMID:34031707


    • An association has been curated linking NPHP3-ACAD11 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:8595856 (Homo sapiens)
  • 489 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 2 papers in RGD have been used to annotate NPHP3-ACAD11
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:18371931 PMID:19303681 PMID:23559409 PMID:25741868 PMID:28492532 PMID:32040628


    • An association has been curated linking NPHP3-ACAD11 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:8643422 (Homo sapiens)
  • 489 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 2 papers in RGD have been used to annotate NPHP3-ACAD11
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:23559409 PMID:25741868 PMID:26184788 PMID:28492532 PMID:28921755 PMID:31131822 PMID:33323469 PMID:34031707


    • An association has been curated linking NPHP3-ACAD11 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:13522940|RGD:151729901|RGD:152156900 (Homo sapiens) & RGD:13522940|RGD:151729901|RGD:152156900 (Homo sapiens) & RGD:13522940|RGD:151729901|RGD:152156900 (Homo sapiens)
  • 489 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 2 papers in RGD have been used to annotate NPHP3-ACAD11
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders


    • An association has been curated linking NPHP3-ACAD11 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:156439021|RGD:38487355 (Homo sapiens) & RGD:156439021|RGD:38487355 (Homo sapiens)
  • 489 RGD objects have been annotated to Joubert syndrome  (DOID:0050777)
  • 2 papers in RGD have been used to annotate NPHP3-ACAD11
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome and related disorders
  • Original References(s): PMID:18371931 PMID:23559409 PMID:28492532


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