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1 Annotations Found.

An association has been curated linking POMGNT1 and congenital muscular dystrophy-dystroglycanopathy type A in Pan paniscus.        

  • The association was inferred from sequence orthology (ISO)
  • The annotation was made from Automated assignment of GO, PW and RDO ISS annotations to Chinchilla, Squirrel, Bonobo and/or Dog genes from Human gene annotations
  • The annotation has been inferred from sequence orthology with RGD:8617310 (Homo sapiens)
  • 24 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A  (DOID:0111229)
  • 0 papers in RGD have been used to annotate POMGNT1
  • Curation Notes: ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
  • Original References(s): PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532

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