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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SYNE2 and autosomal dominant Emery-Dreifuss muscular dystrophy 5 in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with SYNE2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant Emery-Dreifuss muscular dystrophy 5  (DOID:0070250)
  • 0 papers in RGD have been used to annotate SYNE2


    • An association has been curated linking SYNE2 and autosomal dominant Emery-Dreifuss muscular dystrophy 5 in Sus scrofa.        

  • 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 SYNE2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant Emery-Dreifuss muscular dystrophy 5  (DOID:0070250)
  • 0 papers in RGD have been used to annotate SYNE2
  • Curation Notes: ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant | ClinVar Annotator: match by term: SYNE2-related condition
  • Original References(s): PMID:16199547 PMID:17576681 PMID:17761684 PMID:18414213 PMID:22995991 PMID:25179549 PMID:25214167 PMID:25587064 PMID:25741868 PMID:26094658 PMID:26467025 PMID:27632638 PMID:28074886 PMID:28166811 PMID:28492532 PMID:28798025 PMID:30755392 PMID:9536098


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