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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking CEP290 and blindness 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:8595381 (Homo sapiens)
  • 281 RGD objects have been annotated to blindness  (DOID:1432)
  • 19 papers in RGD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Blindness
  • Original References(s): PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 PMID:23188109 PMID:25525159 PMID:25741868 PMID:25920555 PMID:26092869 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29398085 PMID:31091803 PMID:31734136


  • An association has been curated linking CEP290 and blindness 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:10448757 (Homo sapiens)
  • 281 RGD objects have been annotated to blindness  (DOID:1432)
  • 19 papers in RGD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Blindness
  • Original References(s): PMID:16909394 PMID:17345604 PMID:17564967 PMID:20690115 PMID:21866095 PMID:23847139 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28497568 PMID:31734136


  • An association has been curated linking CEP290 and blindness 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:12741682 (Homo sapiens)
  • 281 RGD objects have been annotated to blindness  (DOID:1432)
  • 19 papers in RGD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Blindness
  • Original References(s): PMID:16909394 PMID:17345604 PMID:20690115 PMID:25741868 PMID:28492532


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