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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pomgnt2 and muscular dystrophy-dystroglycanopathy type C8 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with POMGNT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type C8  (DOID:0112382)
  • 6 papers in RGD have been used to annotate Pomgnt2


    • An association has been curated linking Pomgnt2 and muscular dystrophy-dystroglycanopathy type C8 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 POMGNT2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to muscular dystrophy-dystroglycanopathy type C8  (DOID:0112382)
  • 6 papers in RGD have been used to annotate Pomgnt2
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
  • Original References(s): PMID:25741868 PMID:27066570 PMID:28492532 PMID:32570172 PMID:35131284


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