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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking MECR and 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:12741503 (Homo sapiens)
  • 257 RGD objects have been annotated to optic atrophy  (DOID:5723)
  • 2 papers in RGD have been used to annotate MECR
  • Curation Notes: ClinVar Annotator: match by term: Optic atrophy
  • Original References(s): PMID:27817865


    • An association has been curated linking MECR and 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:13481663 (Homo sapiens)
  • 257 RGD objects have been annotated to optic atrophy  (DOID:5723)
  • 2 papers in RGD have been used to annotate MECR
  • Curation Notes: ClinVar Annotator: match by term: Optic atrophy
  • Original References(s): PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 PMID:31070877 PMID:31160820 PMID:32445240 PMID:34052969 PMID:9536098


    • An association has been curated linking MECR and 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:12741380 (Homo sapiens)
  • 257 RGD objects have been annotated to optic atrophy  (DOID:5723)
  • 2 papers in RGD have been used to annotate MECR
  • Curation Notes: ClinVar Annotator: match by term: Optic atrophy
  • Original References(s): PMID:27817865 PMID:28492532


    • An association has been curated linking MECR and 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:12741384 (Homo sapiens)
  • 257 RGD objects have been annotated to optic atrophy  (DOID:5723)
  • 2 papers in RGD have been used to annotate MECR
  • Curation Notes: ClinVar Annotator: match by term: Optic atrophy
  • Original References(s): PMID:25741868 PMID:27817865 PMID:28492532 PMID:31137067 PMID:32313153 PMID:37734847


    • An association has been curated linking MECR and 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:12741352 (Homo sapiens)
  • 257 RGD objects have been annotated to optic atrophy  (DOID:5723)
  • 2 papers in RGD have been used to annotate MECR
  • Curation Notes: ClinVar Annotator: match by term: Optic atrophy
  • Original References(s): PMID:25741868 PMID:27817865 PMID:28492532 PMID:32313153


    • An association has been curated linking MECR and 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:12741502 (Homo sapiens)
  • 257 RGD objects have been annotated to optic atrophy  (DOID:5723)
  • 2 papers in RGD have been used to annotate MECR
  • Curation Notes: ClinVar Annotator: match by term: Optic atrophy
  • Original References(s): PMID:25741868 PMID:27817865 PMID:28492532 PMID:31070877 PMID:32445240 PMID:34052969


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