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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Gphn and Leber congenital amaurosis 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 GPHN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 147 RGD objects have been annotated to Leber congenital amaurosis  (DOID:14791)
  • 12 papers in RGD have been used to annotate Gphn
  • Curation Notes: ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital
  • Original References(s): PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 PMID:17197551 PMID:17389517 PMID:17512964 PMID:17576681 PMID:17964524 PMID:19011012 PMID:19956407 PMID:20006610 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23105016 PMID:23661369 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:24625443 PMID:25412400 PMID:25494902 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26124963 PMID:26306921 PMID:26355662 PMID:26497376 PMID:26667666 PMID:27032803 PMID:27208204 PMID:28041643 PMID:28157192 PMID:28418496 PMID:28471114 PMID:28492532 PMID:28512305 PMID:28513254 PMID:28559085 PMID:29178642 PMID:29186038 PMID:30134391 PMID:30372751 PMID:30718709 PMID:30979730 PMID:31054281 PMID:31814694 PMID:32014858 PMID:32865313 PMID:9536098


    • An association has been curated linking Gphn and Leber congenital amaurosis 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 GPHN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 147 RGD objects have been annotated to Leber congenital amaurosis  (DOID:14791)
  • 12 papers in RGD have been used to annotate Gphn
  • Curation Notes: ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis
  • Original References(s): PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 PMID:17197551 PMID:17389517 PMID:17512964 PMID:17576681 PMID:17964524 PMID:19011012 PMID:19140180 PMID:19956407 PMID:20006610 PMID:20301475 PMID:20683928 PMID:20736127 PMID:21151602 PMID:22065924 PMID:23105016 PMID:23591405 PMID:23661369 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:24625443 PMID:24752437 PMID:25133751 PMID:25412400 PMID:25494902 PMID:25741868 PMID:25741898 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26124963 PMID:26261414 PMID:26306921 PMID:26355662 PMID:26497376 PMID:26667666 PMID:26848971 PMID:26992781 PMID:27032803 PMID:27208204 PMID:27422788 PMID:27809489 PMID:28041643 PMID:28157192 PMID:28418496 PMID:28471114 PMID:28492532 PMID:28512305 PMID:28513254 PMID:28559085 PMID:29178642 PMID:29186038 PMID:30134391 PMID:30372751 PMID:30543658 PMID:30718709 PMID:30902645 PMID:30979730 PMID:31054281 PMID:31456290 PMID:31630094 PMID:31801355 PMID:31814694 PMID:31816670 PMID:32014858 PMID:32037395 PMID:32141364 PMID:32790509 PMID:32865313 PMID:33090715 PMID:33576794 PMID:33970760 PMID:34001834 PMID:34448047 PMID:35006499 PMID:35119454 PMID:35994252 PMID:36284670 PMID:36690427 PMID:36909829 PMID:9536098


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