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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking B9d1 and Joubert syndrome 1 in Rattus norvegicus.        

  • 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 B9D1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 238 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 5 papers in RGD have been used to annotate B9d1
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
  • Original References(s): PMID:16199547 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:28492532 PMID:29165578 PMID:30055837 PMID:32622957 PMID:34906502 PMID:9536098


    • An association has been curated linking B9d1 and Joubert syndrome 1 in Rattus norvegicus.        

  • 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 B9D1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 238 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 5 papers in RGD have been used to annotate B9d1
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
  • Original References(s): PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:28492532 PMID:32622957 PMID:34906502 PMID:9536098


    • An association has been curated linking B9d1 and Joubert syndrome 1 in Rattus norvegicus.        

  • 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 B9D1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 238 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 5 papers in RGD have been used to annotate B9d1
  • Curation Notes: ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
  • Original References(s): PMID:16007087 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:27123465 PMID:28492532 PMID:32622957 PMID:34906502 PMID:9536098


    • An association has been curated linking B9d1 and Joubert syndrome 1 in Rattus norvegicus.        

  • 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 B9D1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 238 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 5 papers in RGD have been used to annotate B9d1
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
  • Original References(s): PMID:16199547 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:28492532 PMID:32622957 PMID:34906502 PMID:9536098


    • An association has been curated linking B9d1 and Joubert syndrome 1 in Rattus norvegicus.        

  • 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 B9D1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 238 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 5 papers in RGD have been used to annotate B9d1
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:16199547 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:28492532 PMID:29165578 PMID:30055837 PMID:32622957 PMID:34906502 PMID:36180924 PMID:9536098


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