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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Smchd1 and Scapulohumeral Muscular Dystrophy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with SMCHD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Scapulohumeral Muscular Dystrophy  (DOID:9006386)
  • 7 papers in RGD have been used to annotate Smchd1
  • Curation Notes: ClinVar Annotator: match by term: Scapulohumeral muscular dystrophy
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532 PMID:32528171


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