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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking GNAT2 and achromatopsia 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:14396440 (Homo sapiens)
  • 12 RGD objects have been annotated to achromatopsia  (DOID:13911)
  • 8 papers in RGD have been used to annotate GNAT2
  • Curation Notes: ClinVar Annotator: match by term: Achromatopsia
  • Original References(s): PMID:25741868


  • An association has been curated linking GNAT2 and achromatopsia in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Gnat2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to achromatopsia  (DOID:13911)
  • 8 papers in RGD have been used to annotate GNAT2


  • An association has been curated linking GNAT2 and achromatopsia 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:13528259 (Homo sapiens)
  • 12 RGD objects have been annotated to achromatopsia  (DOID:13911)
  • 8 papers in RGD have been used to annotate GNAT2
  • Curation Notes: ClinVar Annotator: match by term: Achromatopsia
  • Original References(s): PMID:12077706 PMID:25741868 PMID:28492532 PMID:31058429 PMID:31144483


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