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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MYOT and Myofibrillar 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:8558965 (Homo sapiens)
  • 15 RGD objects have been annotated to Myofibrillar myopathy  (HP:0003715)
  • 5 papers in RGD have been used to annotate MYOT
  • Curation Notes: ClinVar Annotator: match by term: Myofibrillar myopathy
  • Original References(s): PMID:15111675 PMID:15947064 PMID:16684602 PMID:16793270 PMID:17784878 PMID:17931355 PMID:19225410 PMID:19590214 PMID:21361873 PMID:21676617 PMID:22021208 PMID:22349301 PMID:25741868 PMID:26467025 PMID:26842778 PMID:27618136 PMID:28492532 PMID:32041727


    • An association has been curated linking MYOT and Myofibrillar 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 human HPO-to-gene-to-disease annotations
  • 15 RGD objects have been annotated to Myofibrillar myopathy  (HP:0003715)
  • 5 papers in RGD have been used to annotate MYOT
  • Original References(s): MIM:609200


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