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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Kcnq3 and Benign Familial Neonatal Seizures, 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Charlier C, etal., Nat Genet. 1998 Jan;18(1):53-5.
  • The annotation has been inferred from sequence orthology with KCNQ3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Charlier C, etal., Nat Genet. 1998 Jan;18(1):53-5.
  • 2 RGD objects have been annotated to Benign Familial Neonatal Seizures, 2  (DOID:9003109)
  • 10 papers in RGD have been used to annotate Kcnq3
  • Curation Notes: DNA:missense mutation:cds:p.G263V (human)


    • An association has been curated linking Kcnq3 and Benign Familial Neonatal Seizures, 2 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hirose S, etal., Ann Neurol. 2000 Jun;47(6):822-6.
  • The annotation has been inferred from sequence orthology with KCNQ3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hirose S, etal., Ann Neurol. 2000 Jun;47(6):822-6.
  • 2 RGD objects have been annotated to Benign Familial Neonatal Seizures, 2  (DOID:9003109)
  • 10 papers in RGD have been used to annotate Kcnq3
  • Curation Notes: DNA:missense mutation:cds:p.W309R (human)


    • An association has been curated linking Kcnq3 and Benign Familial Neonatal Seizures, 2 in Mus musculus.        

  • 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 KCNQ3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Benign Familial Neonatal Seizures, 2  (DOID:9003109)
  • 10 papers in RGD have been used to annotate Kcnq3


    • An association has been curated linking Kcnq3 and Benign Familial Neonatal Seizures, 2 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 KCNQ3 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Benign Familial Neonatal Seizures, 2  (DOID:9003109)
  • 10 papers in RGD have been used to annotate Kcnq3
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Kcnq3 and Benign Familial Neonatal Seizures, 2 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]
  • 2 RGD objects have been annotated to Benign Familial Neonatal Seizures, 2  (DOID:9003109)
  • 10 papers in RGD have been used to annotate Kcnq3
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2
  • Original References(s): PMID:10852552 PMID:14534157 PMID:16235065 PMID:16883520 PMID:17576681 PMID:17765802 PMID:18249525 PMID:18354422 PMID:18425618 PMID:1859177 PMID:18625963 PMID:19167866 PMID:19344764 PMID:19464834 PMID:20437616 PMID:21687499 PMID:21703448 PMID:22612257 PMID:23020937 PMID:23146207 PMID:23360469 PMID:23596459 PMID:23934111 PMID:24375629 PMID:25052858 PMID:25278462 PMID:25524373 PMID:25740509 PMID:25741868 PMID:25741905 PMID:26350515 PMID:26467025 PMID:26582918 PMID:27888506 PMID:28135719 PMID:28492532 PMID:28628100 PMID:29358611 PMID:29655203 PMID:30348901 PMID:30578330 PMID:30782577 PMID:31177578 PMID:31238879 PMID:31785789 PMID:32086284 PMID:33004838 PMID:34356170 PMID:9425900 PMID:9536098


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