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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Sun1 and Emery-Dreifuss muscular dystrophy in Mus musculus.        

  • The association was inferred from mutant phenotype (IMP)
  •  
  • The annotation was made from Chen CY, etal., Cell. 2012 Apr 27;149(3):565-77. doi: 10.1016/j.cell.2012.01.059.
  • 8 additional annotations were made from Chen CY, etal., Cell. 2012 Apr 27;149(3):565-77. doi: 10.1016/j.cell.2012.01.059.
  • 15 CRRD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 10 papers in CRRD have been used to annotate Sun1
  • Qualifier: severity

  • This annotation was curated on 2018-04-28 09:00:33.0 by CRRD . For more information contact us

    An association has been curated linking Sun1 and Emery-Dreifuss muscular dystrophy in Mus musculus.        

  • The association was inferred from expression pattern (IEP)
  •  
  • The annotation was made from Chen CY, etal., Cell. 2012 Apr 27;149(3):565-77. doi: 10.1016/j.cell.2012.01.059.
  • 8 additional annotations were made from Chen CY, etal., Cell. 2012 Apr 27;149(3):565-77. doi: 10.1016/j.cell.2012.01.059.
  • 15 CRRD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 10 papers in CRRD have been used to annotate Sun1
  • Curation Notes: protein:altered localization:liver, Golgi (mouse)

  • This annotation was curated on 2018-04-28 09:00:39.0 by CRRD . For more information contact us

    An association has been curated linking Sun1 and Emery-Dreifuss muscular dystrophy in Mus musculus.        

  • 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]
  • 15 CRRD objects have been annotated to Emery-Dreifuss muscular dystrophy  (DOID:11726)
  • 10 papers in CRRD have been used to annotate Sun1
  • Curation Notes: ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy
  • Original References(s): PMID:28492532

  • This annotation was curated on 2019-07-09 05:31:45.0 by CRRD . For more information contact us

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