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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking CEP290 and Meckel syndrome 6 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:8595377 (Homo sapiens)
  • 3 RGD objects have been annotated to Meckel syndrome 6  (DOID:0070120)
  • 19 papers in RGD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 6
  • Original References(s): PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:18414213 PMID:20690115 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28492532 PMID:30718709


    • An association has been curated linking CEP290 and Meckel syndrome 6 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:8595383 (Homo sapiens)
  • 3 RGD objects have been annotated to Meckel syndrome 6  (DOID:0070120)
  • 19 papers in RGD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 6
  • Original References(s): PMID:18327255 PMID:26092869


    • An association has been curated linking CEP290 and Meckel syndrome 6 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:40814890 (Homo sapiens)
  • 3 RGD objects have been annotated to Meckel syndrome 6  (DOID:0070120)
  • 19 papers in RGD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Meckel syndrome, type 6


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