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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking MKKS and fundus dystrophy 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:26909792 (Homo sapiens)
  • 1015 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 8 papers in RGD have been used to annotate MKKS
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:28492532


    • An association has been curated linking MKKS and fundus dystrophy 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:26909962 (Homo sapiens)
  • 1015 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 8 papers in RGD have been used to annotate MKKS
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:25741868


    • An association has been curated linking MKKS and fundus dystrophy 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:8596759 (Homo sapiens)
  • 1015 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 8 papers in RGD have been used to annotate MKKS
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 PMID:20226561 PMID:20498079 PMID:21209035 PMID:25741868 PMID:25982971 PMID:28492532


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