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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking POMT2 and congenital muscular dystrophy-dystroglycanopathy type A1 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)
  • 6 CRRD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A1  (DOID:0111237)
  • 0 papers in CRRD have been used to annotate POMT2
  • Curation Notes: OMIM:236670


  • An association has been curated linking POMT2 and congenital muscular dystrophy-dystroglycanopathy type A1 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)
  • 6 CRRD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A1  (DOID:0111237)
  • 0 papers in CRRD 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 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)
  • 6 CRRD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A1  (DOID:0111237)
  • 0 papers in CRRD 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


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