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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking DNM2 and myopathy 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 Dnm2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1395 RGD objects have been annotated to myopathy  (DOID:423)
  • 7 papers in RGD have been used to annotate DNM2


    • An association has been curated linking DNM2 and myopathy 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:8559803 (Homo sapiens)
  • 1395 RGD objects have been annotated to myopathy  (DOID:423)
  • 7 papers in RGD have been used to annotate DNM2
  • Curation Notes: ClinVar Annotator: match by term: Myopathy
  • Original References(s): PMID:16227997 PMID:17008356 PMID:17825552 PMID:18414213 PMID:19130742 PMID:20227276 PMID:20529869 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22396310 PMID:22613877 PMID:23338057 PMID:23394783 PMID:24465259 PMID:25262827 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:28492532


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