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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

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 Köroglu Ç, etal., J Med Genet. 2013 Aug;50(8):515-20. doi: 10.1136/jmedgenet-2013-101634. Epub 2013 Jun 7.
  • 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 Köroglu Ç, etal., J Med Genet. 2013 Aug;50(8):515-20. doi: 10.1136/jmedgenet-2013-101634. Epub 2013 Jun 7.
  • 1 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:nonsense mutation:exon 16: p.Q642X (c.1924C>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 OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 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


    • 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.
  • 1 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 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 NALCN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 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: ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | ClinVar Annotator: match by term: NALCN-related condition | ClinVar Annotator: match by term: NALCN-related disorders
  • Original References(s): PMID:17576681 PMID:23749988 PMID:24075186 PMID:25533962 PMID:25683120 PMID:25741868 PMID:25741916 PMID:28492532 PMID:29168298 PMID:29610177 PMID:30167850 PMID:30293248 PMID:32698188 PMID:9536098


    • 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 RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with NALCN (Homo sapiens) [(EXP) inferred from experiment]
  • 1 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: CTD Direct Evidence: marker/mechanism


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