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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking SUN1 and Emery-Dreifuss muscular dystrophy in Canis lupus familiaris.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with Sun1 (Mus musculus)
  • 127 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 0 papers in RGD have been used to annotate SUN1
  • Qualifier: severity
  • Original References(s): PMID:22541428 REF_RGD_ID:10044242


    • An association has been curated linking SUN1 and Emery-Dreifuss muscular dystrophy in Canis lupus familiaris.        

  • 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 SUN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 127 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 0 papers in RGD have been used to annotate SUN1
  • Curation Notes: ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:16199547 PMID:28492532


    • An association has been curated linking SUN1 and Emery-Dreifuss muscular dystrophy in Canis lupus familiaris.        

  • 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 SUN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 127 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 0 papers in RGD have been used to annotate SUN1
  • Curation Notes: ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:16199547 PMID:17576681 PMID:28492532 PMID:9536098


    • An association has been curated linking SUN1 and Emery-Dreifuss muscular dystrophy in Canis lupus familiaris.        

  • 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 SUN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 127 RGD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 0 papers in RGD have been used to annotate SUN1
  • Curation Notes: ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098


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