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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Rpgr and Ciliary Motility Disorders in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Moore A, etal., J Med Genet. 2006 Apr;43(4):326-33. Epub 2005 Jul 31.
  • The annotation has been inferred from sequence orthology with RPGR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Moore A, etal., J Med Genet. 2006 Apr;43(4):326-33. Epub 2005 Jul 31.
  • 374 RGD objects have been annotated to Ciliary Motility Disorders  (DOID:9001591)
  • 27 papers in RGD have been used to annotate Rpgr
  • Curation Notes: associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human)


    • An association has been curated linking Rpgr and Ciliary Motility Disorders 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 RPGR (Homo sapiens)
  • 374 RGD objects have been annotated to Ciliary Motility Disorders  (DOID:9001591)
  • 27 papers in RGD have been used to annotate Rpgr
  • Curation Notes: ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME
  • Original References(s): PMID:10480356 PMID:10482958 PMID:10737996 PMID:10932196 PMID:10937588 PMID:10946359 PMID:11180598 PMID:11754050 PMID:11793468 PMID:11857109 PMID:11875055 PMID:11992260 PMID:12160730 PMID:12402343 PMID:12657579 PMID:12859409 PMID:14564670 PMID:15734019 PMID:16055928 PMID:16199547 PMID:16387007 PMID:16786505 PMID:16936086 PMID:16969763 PMID:17195164 PMID:17405150 PMID:17480003 PMID:17576681 PMID:17724181 PMID:17898302 PMID:18332319 PMID:18487280 PMID:18552978 PMID:19138872 PMID:19218993 PMID:19475717 PMID:19783189 PMID:19815619 PMID:20631154 PMID:20861475 PMID:21326217 PMID:21857984 PMID:21866333 PMID:22264887 PMID:22382802 PMID:22494545 PMID:22888088 PMID:23150612 PMID:23213406 PMID:23372056 PMID:23591405 PMID:23681342 PMID:23847139 PMID:23950152 PMID:24033266 PMID:25097241 PMID:25356976 PMID:25640679 PMID:25741868 PMID:26261414 PMID:26747767 PMID:26766544 PMID:27620828 PMID:27768226 PMID:28041643 PMID:28127548 PMID:28322733 PMID:28492532 PMID:28559085 PMID:28863407 PMID:28912962 PMID:29276052 PMID:29453956 PMID:29528978 PMID:29555955 PMID:29641573 PMID:29721948 PMID:29785639 PMID:30029497 PMID:30067075 PMID:30105367 PMID:30193314 PMID:30337596 PMID:30543658 PMID:30622176 PMID:30718709 PMID:30902645 PMID:30917587 PMID:30924848 PMID:31054281 PMID:31087526 PMID:31456290 PMID:31630094 PMID:31645972 PMID:31804667 PMID:31953110 PMID:31960602 PMID:32000842 PMID:32037395 PMID:32531858 PMID:32679846 PMID:32702353 PMID:32788070 PMID:32856788 PMID:33090715 PMID:33355362 PMID:33546218 PMID:33576794 PMID:34906470 PMID:34946927 PMID:35892439 PMID:8673101 PMID:8817343 PMID:9326322 PMID:9331262 PMID:9399904 PMID:9536098 PMID:9855162 PMID:9990021


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