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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking POMT2 and muscular dystrophy in Canis lupus familiaris.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • 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 or structural similarity with POMT2 (Homo sapiens)
  • 298 CRRD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 0 papers in CRRD have been used to annotate POMT2
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy
  • 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 muscular dystrophy in Canis lupus familiaris.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • 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 or structural similarity with POMT2 (Homo sapiens)
  • 298 CRRD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 0 papers in CRRD have been used to annotate POMT2
  • Curation Notes: DNA:missense mutations, nonsense mutation:exon: p.W647X (c.1941G>A), p.W748R (c.2242T>C), p.Y666C (c.1997A>G) (human)
  • Original References(s): PMID:17634419, REF_RGD_ID:11532760


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.