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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Kcnb1 and developmental and epileptic encephalopathy 26 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 KCNB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to developmental and epileptic encephalopathy 26  (DOID:0080461)
  • 38 papers in RGD have been used to annotate Kcnb1


    • An association has been curated linking Kcnb1 and developmental and epileptic encephalopathy 26 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from de Kovel CGF, etal., JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714.
  • The annotation has been inferred from sequence orthology with KCNB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 additional annotations were made from de Kovel CGF, etal., JAMA Neurol. 2017 Oct 1;74(10):1228-1236. doi: 10.1001/jamaneurol.2017.1714.
  • 8 RGD objects have been annotated to developmental and epileptic encephalopathy 26  (DOID:0080461)
  • 38 papers in RGD have been used to annotate Kcnb1
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutations, nonsense mutations, frameshift mutation:CDS:multiple (human)


    • An association has been curated linking Kcnb1 and developmental and epileptic encephalopathy 26 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Hawkins NA, etal., Neurobiol Dis. 2021 Jan;147:105141. doi: 10.1016/j.nbd.2020.105141. Epub 2020 Oct 22.
  • The annotation has been inferred from sequence orthology with Kcnb1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Hawkins NA, etal., Neurobiol Dis. 2021 Jan;147:105141. doi: 10.1016/j.nbd.2020.105141. Epub 2020 Oct 22.
  • 8 RGD objects have been annotated to developmental and epileptic encephalopathy 26  (DOID:0080461)
  • 38 papers in RGD have been used to annotate Kcnb1
  • Qualifier: exacerbates
  • Curation Notes: DNA:missense mutation:CDS:p.G379R (mouse)


    • An association has been curated linking Kcnb1 and developmental and epileptic encephalopathy 26 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 KCNB1 (Homo sapiens) [(EXP) inferred from experiment]
  • 8 RGD objects have been annotated to developmental and epileptic encephalopathy 26  (DOID:0080461)
  • 38 papers in RGD have been used to annotate Kcnb1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Kcnb1 and developmental and epileptic encephalopathy 26 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 KCNB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 RGD objects have been annotated to developmental and epileptic encephalopathy 26  (DOID:0080461)
  • 38 papers in RGD have been used to annotate Kcnb1
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 26 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 26 | ClinVar Annotator: match by term: KCNB1-related disorder
  • Original References(s): PMID:17576681 PMID:19029374 PMID:25131622 PMID:25164438 PMID:25741868 PMID:26467025 PMID:26477325 PMID:26503721 PMID:26648591 PMID:27652284 PMID:27928161 PMID:28173649 PMID:28252636 PMID:28492532 PMID:28806457 PMID:29264397 PMID:29322350 PMID:29758562 PMID:30182498 PMID:31512327 PMID:31513310 PMID:3153310 PMID:31600826 PMID:31780880 PMID:31791873 PMID:32036363 PMID:32581362 PMID:32954514 PMID:33132203 PMID:33951346 PMID:34490615 PMID:35071126 PMID:35982159 PMID:8698327 PMID:9536098


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