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GENE - TERM ANNOTATION REPORT

8 Annotations Found.

An association has been curated linking POMT1 and Walker-Warburg syndrome in Sus scrofa.        

  • 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:13528652 (Homo sapiens)
  • 33 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 0 papers in RGD have been used to annotate POMT1
  • Curation Notes: ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
  • Original References(s): PMID:24033266


  • An association has been curated linking POMT1 and Walker-Warburg syndrome in Sus scrofa.        

  • 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:8557306 (Homo sapiens)
  • 33 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 0 papers in RGD have been used to annotate POMT1
  • Curation Notes: ClinVar Annotator: match by term: Pagon syndrome
  • Original References(s): PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28492532 PMID:32860008


  • An association has been curated linking POMT1 and Walker-Warburg syndrome in Sus scrofa.        

  • 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 POMT1 (Homo sapiens)
  • 33 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 0 papers in RGD have been used to annotate POMT1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking POMT1 and Walker-Warburg syndrome in Sus scrofa.        

  • 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 POMT1 (Homo sapiens)
  • 33 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 0 papers in RGD have been used to annotate POMT1
  • Curation Notes: DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple
  • Original References(s): PMID:12369018 REF_RGD_ID:731235


  • An association has been curated linking POMT1 and Walker-Warburg syndrome in Sus scrofa.        

  • 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 POMT1 (Homo sapiens)
  • 33 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 0 papers in RGD have been used to annotate POMT1
  • Curation Notes: DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)
  • Original References(s): PMID:15637732 REF_RGD_ID:11073321


  • An association has been curated linking POMT1 and Walker-Warburg syndrome in Sus scrofa.        

  • 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:8642367 (Homo sapiens)
  • 33 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 0 papers in RGD have been used to annotate POMT1
  • Curation Notes: ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
  • Original References(s): PMID:12369018 PMID:25741868 PMID:28116189 PMID:28492532


  • An association has been curated linking POMT1 and Walker-Warburg syndrome in Sus scrofa.        

  • 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 POMT1 (Homo sapiens)
  • 33 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 0 papers in RGD have been used to annotate POMT1
  • Curation Notes: DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple
  • Original References(s): PMID:16575835 REF_RGD_ID:11532686


  • An association has been curated linking POMT1 and Walker-Warburg syndrome in Sus scrofa.        

  • 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:14692916 (Homo sapiens)
  • 33 RGD objects have been annotated to Walker-Warburg syndrome  (DOID:0050560)
  • 0 papers in RGD have been used to annotate POMT1
  • Curation Notes: ClinVar Annotator: match by term: Walker-Warburg syndrome
  • Original References(s): PMID:12369018 PMID:15637732 PMID:16575835 PMID:17559086 PMID:22323514 PMID:28492532


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