Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking CEP290 and fundus dystrophy in Pan paniscus.        

  • 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]
  • 690 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 0 papers in RGD have been used to annotate CEP290
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21245082 PMID:21602930 PMID:22355252 PMID:22693042 PMID:22699515 PMID:23034536 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26673778 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27434533 PMID:27491411 PMID:27894351 PMID:28041643 PMID:28418496 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28660274 PMID:28829391 PMID:28966547 PMID:28973549 PMID:29178642 PMID:29217415 PMID:29398085 PMID:29771326 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30897646 PMID:30902645 PMID:31091803 PMID:31411728 PMID:31680349 PMID:31734136 PMID:31884610 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32865313 PMID:33546218 PMID:33576794 PMID:33924653 PMID:33946315 PMID:34321860 PMID:35836572 PMID:36460718 PMID:36909829 PMID:37008293


  • Go Back to source page   Continue to Ontology report