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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Dcx and Classical Lissencephalies and Subcortical Band Heterotopias in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Tsai MH, etal., Eur J Paediatr Neurol. 2016 Sep;20(5):788-94. doi: 10.1016/j.ejpn.2016.05.010. Epub 2016 May 30.
  • The annotation has been inferred from sequence orthology with DCX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Tsai MH, etal., Eur J Paediatr Neurol. 2016 Sep;20(5):788-94. doi: 10.1016/j.ejpn.2016.05.010. Epub 2016 May 30.
  • 6 RGD objects have been annotated to Classical Lissencephalies and Subcortical Band Heterotopias  (DOID:9008500)
  • 27 papers in RGD have been used to annotate Dcx
  • Curation Notes: DNA:missense mutation:exon:p.D262G (c.785A>G) (human)


    • An association has been curated linking Dcx and Classical Lissencephalies and Subcortical Band Heterotopias in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Guerrini R, etal., Ann Neurol. 2003 Jul;54(1):30-7.
  • The annotation has been inferred from sequence orthology with DCX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Guerrini R, etal., Ann Neurol. 2003 Jul;54(1):30-7.
  • 6 RGD objects have been annotated to Classical Lissencephalies and Subcortical Band Heterotopias  (DOID:9008500)
  • 27 papers in RGD have been used to annotate Dcx
  • Curation Notes: DNA:missense mutations: :multiple


    • An association has been curated linking Dcx and Classical Lissencephalies and Subcortical Band Heterotopias in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Aigner L, etal., Neuropediatrics. 2000 Aug;31(4):195-8.
  • The annotation has been inferred from sequence orthology with DCX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Aigner L, etal., Neuropediatrics. 2000 Aug;31(4):195-8.
  • 6 RGD objects have been annotated to Classical Lissencephalies and Subcortical Band Heterotopias  (DOID:9008500)
  • 27 papers in RGD have been used to annotate Dcx
  • Curation Notes: DNA:missense mutation:exon:p.A71S (211G>T) (human)


    • An association has been curated linking Dcx and Classical Lissencephalies and Subcortical Band Heterotopias in Mus musculus.        

  • 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 DCX (Homo sapiens) [(EXP) inferred from experiment]
  • 6 RGD objects have been annotated to Classical Lissencephalies and Subcortical Band Heterotopias  (DOID:9008500)
  • 27 papers in RGD have been used to annotate Dcx
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Dcx and Classical Lissencephalies and Subcortical Band Heterotopias 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 DCX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 6 RGD objects have been annotated to Classical Lissencephalies and Subcortical Band Heterotopias  (DOID:9008500)
  • 27 papers in RGD have been used to annotate Dcx
  • Curation Notes: ClinVar Annotator: match by term: Lissencephaly, X-linked
  • Original References(s): PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 PMID:25741868 PMID:28492532 PMID:35213059


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