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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking NALCN and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Al-Sayed MD, etal., Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26.
  • 2 additional annotations were made from Al-Sayed MD, etal., Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26.
  • 3 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1  (DOID:9008988)
  • 7 papers in RGD have been used to annotate NALCN
  • Curation Notes: DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)


    • An association has been curated linking Nalcn and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Al-Sayed MD, etal., Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26.
  • The annotation has been inferred from sequence orthology with NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Al-Sayed MD, etal., Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26.
  • 3 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1  (DOID:9008988)
  • 9 papers in RGD have been used to annotate Nalcn
  • Curation Notes: DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)


    • An association has been curated linking Nalcn and Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Al-Sayed MD, etal., Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26.
  • The annotation has been inferred from sequence orthology with NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Al-Sayed MD, etal., Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26.
  • 3 RGD objects have been annotated to Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1  (DOID:9008988)
  • 6 papers in RGD have been used to annotate Nalcn
  • Curation Notes: DNA:deletion, missense mutation:exon 13, exon 34:p.Y497Tfs*21 (c.1489delT), p.W1287L (c.3860G>T) (human)


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