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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PRICKLE3 and Leber optic atrophy 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:41408048 (Homo sapiens)
  • 33 RGD objects have been annotated to Leber optic atrophy  (HP:0001112)
  • 2 papers in RGD have been used to annotate PRICKLE3
  • Curation Notes: ClinVar Annotator: match by term: Leber optic degeneration
  • Original References(s): PMID:32516135


  • An association has been curated linking PRICKLE3 and Leber optic atrophy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 33 RGD objects have been annotated to Leber optic atrophy  (HP:0001112)
  • 2 papers in RGD have been used to annotate PRICKLE3
  • Original References(s): OMIM:308905


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