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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Chrnb2 and autosomal dominant nocturnal frontal lobe epilepsy in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Phillips HA, etal., Am J Hum Genet 2001 Jan;68(1):225-31. Epub 2000 Dec 5.
  • The annotation has been inferred from sequence orthology with CHRNB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Phillips HA, etal., Am J Hum Genet 2001 Jan;68(1):225-31. Epub 2000 Dec 5.
  • 107 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy  (DOID:0060681)
  • 15 papers in RGD have been used to annotate Chrnb2


  • An association has been curated linking Chrnb2 and autosomal dominant nocturnal frontal lobe epilepsy 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 CHRNB2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 107 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy  (DOID:0060681)
  • 15 papers in RGD have been used to annotate Chrnb2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy
  • Original References(s): PMID:11062464 PMID:11104662 PMID:11906688 PMID:16199547 PMID:17576681 PMID:17900292 PMID:18414213 PMID:18456869 PMID:19059498 PMID:19237585 PMID:20736995 PMID:21703448 PMID:22036597 PMID:22897520 PMID:25741868 PMID:26467025 PMID:26475232 PMID:27336596 PMID:28488083 PMID:28492532 PMID:9536098


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