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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking MARK3 and visual impairment and progressive phthisis bulbi 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:150531014 (Homo sapiens)
  • 1 RGD objects have been annotated to visual impairment and progressive phthisis bulbi  (DOID:0070356)
  • 3 papers in RGD have been used to annotate MARK3
  • Curation Notes: ClinVar Annotator: match by term: Visual impairment and progressive phthisis bulbi
  • Original References(s): PMID:25741868


  • An association has been curated linking MARK3 and visual impairment and progressive phthisis bulbi in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to visual impairment and progressive phthisis bulbi  (DOID:0070356)
  • 3 papers in RGD have been used to annotate MARK3


  • An association has been curated linking MARK3 and visual impairment and progressive phthisis bulbi 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:14349859 (Homo sapiens)
  • 1 RGD objects have been annotated to visual impairment and progressive phthisis bulbi  (DOID:0070356)
  • 3 papers in RGD have been used to annotate MARK3
  • Curation Notes: ClinVar Annotator: match by term: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
  • Original References(s): PMID:29771303


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