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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Isl1 and congenital heart disease 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 ISL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1385 RGD objects have been annotated to congenital heart disease  (DOID:1682)
  • 34 papers in RGD have been used to annotate Isl1
  • Curation Notes: ClinVar Annotator: match by term: Heart, malformation of


  • An association has been curated linking Isl1 and congenital heart disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Ma L, etal., Heart Vessels. 2019 Apr;34(4):658-668. doi: 10.1007/s00380-018-1289-z. Epub 2018 Nov 2.
  • The annotation has been inferred from sequence orthology with ISL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ma L, etal., Heart Vessels. 2019 Apr;34(4):658-668. doi: 10.1007/s00380-018-1289-z. Epub 2018 Nov 2.
  • 1385 RGD objects have been annotated to congenital heart disease  (DOID:1682)
  • 34 papers in RGD have been used to annotate Isl1
  • Curation Notes: DNA:mutation:cds: c.409G>T (p.E137X)(human)


  • An association has been curated linking Isl1 and congenital heart disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Stevens KN, etal.
  • The annotation has been inferred from sequence orthology with ISL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Stevens KN, etal.
  • 1385 RGD objects have been annotated to congenital heart disease  (DOID:1682)
  • 34 papers in RGD have been used to annotate Isl1
  • Qualifier: susceptibility
  • Curation Notes: DNA:SNPs, haplotype:intron, 3'UTR:(human)


  • An association has been curated linking Isl1 and congenital heart disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Cresci M, etal., Pediatr Cardiol. 2013 Apr;34(4):938-41. doi: 10.1007/s00246-012-0578-z. Epub 2012 Nov 15.
  • The annotation has been inferred from sequence orthology with ISL1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cresci M, etal., Pediatr Cardiol. 2013 Apr;34(4):938-41. doi: 10.1007/s00246-012-0578-z. Epub 2012 Nov 15.
  • 1385 RGD objects have been annotated to congenital heart disease  (DOID:1682)
  • 34 papers in RGD have been used to annotate Isl1
  • Qualifier: no_association
  • Curation Notes: DNA:SNPs:3'UTR:(human)


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