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GENE - TERM ANNOTATION REPORT

28 Annotations Found.

An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by OMIM:610188

  • This annotation was curated on 2019-09-10 06:48:17.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:26092869, PMID:28492532

  • This annotation was curated on 2019-09-10 06:42:34.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:16682970, PMID:26092869, PMID:28041643

  • This annotation was curated on 2019-09-10 06:49:35.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:17564967, PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-09-10 06:48:50.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:17564974, PMID:19466712, PMID:19764032, PMID:26092869, PMID:28492532, PMID:30718709

  • This annotation was curated on 2019-09-10 06:47:50.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:26047050, PMID:26092869, PMID:27491411, PMID:28492532

  • This annotation was curated on 2019-09-10 06:47:46.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:17409309, PMID:25741868

  • This annotation was curated on 2019-09-10 06:42:39.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:16682973, PMID:17345604, PMID:18414213, PMID:21245082, PMID:22355252, PMID:25920555, PMID:26092869, PMID:28492532

  • This annotation was curated on 2019-09-10 06:48:51.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:16909394, PMID:17345604, PMID:20690115, PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-09-10 06:50:32.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:17345604, PMID:17564974, PMID:21602930, PMID:23027964, PMID:25741868, PMID:28492532, PMID:29398085

  • This annotation was curated on 2019-09-10 06:43:46.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:30718709

  • This annotation was curated on 2019-09-10 06:44:59.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:16682970, PMID:16682973, PMID:17564967, PMID:18414213, PMID:21068128, PMID:21245082, PMID:22355252, PMID:22693042, PMID:23591405, PMID:23954617, PMID:25741868, PMID:25818971, PMID:26092869, PMID:27353947, PMID:28492532, PMID:30718709

  • This annotation was curated on 2019-09-10 06:49:35.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:17345604, PMID:25741868, PMID:26092869, PMID:28492532, PMID:28497568

  • This annotation was curated on 2019-09-10 06:42:40.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:20683928, PMID:25741868, PMID:26092869, PMID:28492532, PMID:29398085

  • This annotation was curated on 2019-09-10 06:42:32.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:17564967, PMID:17705300, PMID:19466712, PMID:19764032, PMID:20683928, PMID:21245082, PMID:25741868, PMID:28041643, PMID:28492532

  • This annotation was curated on 2019-09-10 06:42:32.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:21153841, PMID:23351400, PMID:25741868, PMID:26047050, PMID:28492532

  • This annotation was curated on 2019-09-10 06:42:51.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by OMIM:610188
  • Original References(s): PMID:26092869

  • This annotation was curated on 2019-09-10 06:48:26.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290

  • This annotation was curated on 2019-09-04 19:57:06.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by OMIM:610188
  • Original References(s): PMID:18327255, PMID:26092869

  • This annotation was curated on 2019-09-10 06:49:35.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by null
  • Original References(s): PMID:16682973

  • This annotation was curated on 2019-09-10 06:48:16.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:16909394, PMID:17345604, PMID:17564967, PMID:17964524, PMID:23344081, PMID:25741868, PMID:28492532

  • This annotation was curated on 2019-09-10 06:49:35.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:25741868, PMID:26092869

  • This annotation was curated on 2019-09-10 06:47:46.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-09-10 06:49:35.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:17345604

  • This annotation was curated on 2019-09-10 06:50:20.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:21068128

  • This annotation was curated on 2019-09-10 06:50:02.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 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 CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:17564967, PMID:25741868, PMID:26092869

  • This annotation was curated on 2019-09-10 06:49:35.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Helou J, etal., J Med Genet. 2007 Oct;44(10):657-63. Epub 2007 Jul 6.
  • The annotation has been inferred from sequence orthology with CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Helou J, etal., J Med Genet. 2007 Oct;44(10):657-63. Epub 2007 Jul 6.
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple

  • This annotation was curated on 2018-01-27 09:00:29.0 by RGD . For more information contact us

    An association has been curated linking Cep290 and Joubert syndrome 5 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Tory K, etal., J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.
  • The annotation has been inferred from sequence orthology with CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Tory K, etal., J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.
  • 1 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 16 papers in RGD have been used to annotate Cep290
  • Curation Notes: DNA:deletions, insertion: :multiple

  • This annotation was curated on 2018-01-27 09:00:29.0 by RGD . For more information contact us

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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.