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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Cep290 and Meckel syndrome 4 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]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 21 papers in RGD have been used to annotate Cep290


    • An association has been curated linking Cep290 and Meckel syndrome 4 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Frank V, etal., Hum Mutat. 2008 Jan;29(1):45-52.
  • 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 Frank V, etal., Hum Mutat. 2008 Jan;29(1):45-52.
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 21 papers in RGD have been used to annotate Cep290
  • Curation Notes: DNA:frameshift mutation:exon:c.5489del (human)


    • An association has been curated linking Cep290 and Meckel syndrome 4 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Baala L, etal., Am J Hum Genet. 2007 Jul;81(1):170-9. Epub 2007 Jun 4.
  • 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 Baala L, etal., Am J Hum Genet. 2007 Jul;81(1):170-9. Epub 2007 Jun 4.
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 21 papers in RGD have been used to annotate Cep290
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking Cep290 and Meckel syndrome 4 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]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 21 papers in RGD have been used to annotate Cep290
  • Curation Notes: ClinVar Annotator: match by term: CEP290-related disorder | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4
  • 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:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 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:22699515 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:24474277 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26667666 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27894351 PMID:28041643 PMID:28157192 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 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:34906470 PMID:35005812 PMID:35764379 PMID:35836572 PMID:36460718 PMID:36909829 PMID:37008293 PMID:9536098


    • An association has been curated linking Cep290 and Meckel syndrome 4 in Rattus norvegicus.        

  • 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]
  • 3 RGD objects have been annotated to Meckel syndrome 4  (DOID:0070118)
  • 21 papers in RGD have been used to annotate Cep290
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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