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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Best1 and autosomal dominant vitreoretinochoroidopathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with BEST1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant vitreoretinochoroidopathy  (DOID:0111569)
  • 9 papers in RGD have been used to annotate Best1


    • An association has been curated linking Best1 and autosomal dominant vitreoretinochoroidopathy 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 BEST1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to autosomal dominant vitreoretinochoroidopathy  (DOID:0111569)
  • 9 papers in RGD have been used to annotate Best1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VRCP autosomal dominant
  • Original References(s): PMID:10798642 PMID:10854112 PMID:11585313 PMID:12543751 PMID:13534955 PMID:14615048 PMID:15452077 PMID:16754206 PMID:17110374 PMID:17576681 PMID:18179881 PMID:18611979 PMID:19853238 PMID:21072067 PMID:21109774 PMID:21192766 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23290749 PMID:24033266 PMID:25741868 PMID:25999674 PMID:26200502 PMID:26333019 PMID:26771239 PMID:27519691 PMID:27764019 PMID:28492532 PMID:28559085 PMID:29063836 PMID:29068140 PMID:29555955 PMID:29844330 PMID:30718709 PMID:33546218 PMID:9536098


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