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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking Cep290 and Joubert syndrome 5 in Mus musculus.        

  • 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]
  • 2 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 18 papers in RGD have been used to annotate Cep290


    • An association has been curated linking Cep290 and Joubert syndrome 5 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Brancati F, etal., Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18.
  • The annotation has been inferred from sequence orthology with CEP290 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Brancati F, etal., Am J Hum Genet. 2007 Jul;81(1):104-13. doi: 10.1086/519026. Epub 2007 May 18.
  • 2 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 18 papers in RGD have been used to annotate Cep290
  • Curation Notes: DNA:frameshift mutations, nonsense mutations:CDS:multiple (human)


    • An association has been curated linking Cep290 and Joubert syndrome 5 in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 2 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 18 papers in RGD have been used to annotate Cep290
  • Curation Notes: OMIM:610188


    • An association has been curated linking Cep290 and Joubert syndrome 5 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Suzuki T, etal., Clin Genet. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836. Epub 2016 Sep 26.
  • 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 Suzuki T, etal., Clin Genet. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836. Epub 2016 Sep 26.
  • 2 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 18 papers in RGD have been used to annotate Cep290
  • Curation Notes: DNA:SNPs:multiple (human)


    • An association has been curated linking Cep290 and Joubert syndrome 5 in Mus musculus.        

  • 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.
  • 2 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 18 papers in RGD have been used to annotate Cep290
  • Curation Notes: DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple


    • An association has been curated linking Cep290 and Joubert syndrome 5 in Mus musculus.        

  • 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.
  • 2 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 18 papers in RGD have been used to annotate Cep290
  • Curation Notes: DNA:deletions, insertion: :multiple


    • An association has been curated linking Cep290 and Joubert syndrome 5 in Mus musculus.        

  • 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]
  • 2 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 18 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 5
  • Original References(s): PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22446187 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:24850569 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27491411 PMID:27848944 PMID:28041643 PMID:28157192 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28844315 PMID:28912962 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30902645 PMID:31091803 PMID:31624253 PMID:31630094 PMID:31734136 PMID:31816670 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32208788 PMID:32581362 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:36909829 PMID:9536098


    • An association has been curated linking Cep290 and Joubert syndrome 5 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CEP290 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Joubert syndrome 5  (DOID:0111000)
  • 18 papers in RGD have been used to annotate Cep290
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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