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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Fkrp and muscular dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with FKRP (Homo sapiens) [(EXP) inferred from experiment]
  • 597 RGD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 23 papers in RGD have been used to annotate Fkrp
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:29571322


    • An association has been curated linking Fkrp and muscular dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Fkrp (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 597 RGD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 23 papers in RGD have been used to annotate Fkrp
  • Curation Notes: OMIM:158800 | OMIM:159050 | OMIM:309930 | OMIM:309950 | OMIM:310000 | OMIM:310095 | OMIM:600416


    • An association has been curated linking Fkrp and muscular dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Brockington M, etal., Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.
  • The annotation has been inferred from sequence orthology with FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Brockington M, etal., Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.
  • 597 RGD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 23 papers in RGD have been used to annotate Fkrp
  • Curation Notes: DNA:missense mutations, nonsense mutations:exon:multiple


    • An association has been curated linking Fkrp and muscular dystrophy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with FKRP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 597 RGD objects have been annotated to muscular dystrophy  (DOID:9884)
  • 23 papers in RGD have been used to annotate Fkrp
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy
  • Original References(s): PMID:17336067 PMID:25741868 PMID:28492532 PMID:29065428 PMID:31041397 PMID:31671740 PMID:31931849 PMID:34653404


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