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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Kcnq3 and autistic disorder in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Gilling M, etal., Front Genet. 2013 Apr 16;4:54. doi: 10.3389/fgene.2013.00054. eCollection 2013.
  • The annotation has been inferred from sequence orthology with KCNQ3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Gilling M, etal., Front Genet. 2013 Apr 16;4:54. doi: 10.3389/fgene.2013.00054. eCollection 2013.
  • 1871 RGD objects have been annotated to autistic disorder  (DOID:12849)
  • 10 papers in RGD have been used to annotate Kcnq3
  • Curation Notes: DNA:missense mutation:cds:p.574S (rs74582884) (human)


    • An association has been curated linking Kcnq3 and autistic disorder 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 KCNQ3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1871 RGD objects have been annotated to autistic disorder  (DOID:12849)
  • 10 papers in RGD have been used to annotate Kcnq3
  • Curation Notes: ClinVar Annotator: match by term: Autism
  • Original References(s): PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:26350515 PMID:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:34356170


    • An association has been curated linking Kcnq3 and autistic disorder 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 KCNQ3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1871 RGD objects have been annotated to autistic disorder  (DOID:12849)
  • 10 papers in RGD have been used to annotate Kcnq3
  • Curation Notes: ClinVar Annotator: match by term: Autistic behavior
  • Original References(s): PMID:23020937 PMID:23934111 PMID:25740509 PMID:25741868 PMID:25741905 PMID:26350515 PMID:26582918 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29655203 PMID:30578330 PMID:31177578 PMID:31238879 PMID:34356170


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