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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Eln and Williams-Beuren syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Dridi SM, etal., Am J Med Genet. 1999 Nov 19;87(2):134-8.
  • The annotation has been inferred from sequence orthology with ELN (Homo sapiens) [(IEP) inferred from expression pattern]
  • 2 additional annotations were made from Dridi SM, etal., Am J Med Genet. 1999 Nov 19;87(2):134-8.
  • 32 RGD objects have been annotated to Williams-Beuren syndrome  (DOID:1928)
  • 71 papers in RGD have been used to annotate Eln


    • An association has been curated linking Eln and Williams-Beuren syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kotzot D, etal., Eur J Pediatr. 1995 Jun;154(6):477-82.
  • The annotation has been inferred from sequence orthology with ELN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kotzot D, etal., Eur J Pediatr. 1995 Jun;154(6):477-82.
  • 32 RGD objects have been annotated to Williams-Beuren syndrome  (DOID:1928)
  • 71 papers in RGD have been used to annotate Eln


    • An association has been curated linking Eln and Williams-Beuren syndrome 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 ELN (Homo sapiens) [(EXP) inferred from experiment]
  • 32 RGD objects have been annotated to Williams-Beuren syndrome  (DOID:1928)
  • 71 papers in RGD have been used to annotate Eln
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Eln and Williams-Beuren syndrome 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 ELN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 32 RGD objects have been annotated to Williams-Beuren syndrome  (DOID:1928)
  • 71 papers in RGD have been used to annotate Eln
  • Curation Notes: ClinVar Annotator: match by term: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB | ClinVar Annotator: match by term: Williams syndrome
  • Original References(s): PMID:10942104 PMID:25741868 PMID:28492532 PMID:31829210


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