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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking POMT2 and congenital muscular dystrophy-dystroglycanopathy type A1 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:8557283 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A1  (DOID:0111237)
  • 0 papers in RGD have been used to annotate POMT2
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
  • Original References(s): PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:27854218 PMID:28492532


    • An association has been curated linking POMT2 and congenital muscular dystrophy-dystroglycanopathy type A1 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:10050573 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A1  (DOID:0111237)
  • 0 papers in RGD have been used to annotate POMT2
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
  • Original References(s): PMID:17559086 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking POMT2 and congenital muscular dystrophy-dystroglycanopathy type A1 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:8642457 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A1  (DOID:0111237)
  • 0 papers in RGD have been used to annotate POMT2
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking POMT2 and congenital muscular dystrophy-dystroglycanopathy type A1 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:13816053 (Homo sapiens)
  • 6 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A1  (DOID:0111237)
  • 0 papers in RGD have been used to annotate POMT2
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
  • Original References(s): PMID:25741868 PMID:28492532


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