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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Sostdc1 and congenital muscular dystrophy-dystroglycanopathy A7 in Rattus norvegicus.        

  • 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 SOSTDC1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy A7  (DOID:0111234)
  • 9 papers in RGD have been used to annotate Sostdc1
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • Original References(s): PMID:23288328 PMID:28492532


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