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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking ARMC9 and Joubert syndrome 1 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:12911330 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 1 papers in RGD have been used to annotate ARMC9
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:28492532 PMID:28625504 PMID:31474318


    • An association has been curated linking ARMC9 and Joubert syndrome 1 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:12911331 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 1 papers in RGD have been used to annotate ARMC9
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318


    • An association has been curated linking ARMC9 and Joubert syndrome 1 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:12911320|RGD:12912100|RGD:12912310|RGD:26898469 (Homo sapiens) & RGD:12911320|RGD:12912100|RGD:12912310|RGD:26898469 (Homo sapiens) & RGD:12911320|RGD:12912100|RGD:12912310|RGD:26898469 (Homo sapiens) & RGD:12911320|RGD:12912100|RGD:12912310|RGD:26898469 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 1 papers in RGD have been used to annotate ARMC9
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:28625504


    • An association has been curated linking ARMC9 and Joubert syndrome 1 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:12911326 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 1 papers in RGD have been used to annotate ARMC9
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:25741868 PMID:28625504 PMID:39033378


    • An association has been curated linking ARMC9 and Joubert syndrome 1 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:12912264 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 1 papers in RGD have been used to annotate ARMC9
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:25741868 PMID:28625504


    • An association has been curated linking ARMC9 and Joubert syndrome 1 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:12911321|RGD:12911337 (Homo sapiens) & RGD:12911321|RGD:12911337 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 1 papers in RGD have been used to annotate ARMC9
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:28492532 PMID:28625504


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