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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Kcnt1 and autosomal dominant nocturnal frontal lobe epilepsy 5 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 KCNT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 49 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 5  (DOID:0060686)
  • 4 papers in RGD have been used to annotate Kcnt1


    • An association has been curated linking Kcnt1 and autosomal dominant nocturnal frontal lobe epilepsy 5 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 KCNT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 49 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 5  (DOID:0060686)
  • 4 papers in RGD have been used to annotate Kcnt1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5
  • Original References(s): PMID:17576681 PMID:18414213 PMID:18479385 PMID:20301348 PMID:23086396 PMID:23086397 PMID:24029078 PMID:24319675 PMID:24463883 PMID:24591078 PMID:25042079 PMID:25326635 PMID:25326637 PMID:25339316 PMID:25482562 PMID:25590979 PMID:25741868 PMID:25741916 PMID:25985138 PMID:26105150 PMID:26122718 PMID:26140313 PMID:26269628 PMID:26369628 PMID:26467025 PMID:26597493 PMID:26648591 PMID:26740507 PMID:26784557 PMID:26786403 PMID:26993267 PMID:27064559 PMID:27081515 PMID:27578169 PMID:27652284 PMID:27779742 PMID:28081520 PMID:28492532 PMID:28554332 PMID:28987752 PMID:29186148 PMID:29196578 PMID:29358611 PMID:29390993 PMID:30112700 PMID:30182418 PMID:30185235 PMID:30804880 PMID:30868116 PMID:30903923 PMID:31208268 PMID:31216405 PMID:31388363 PMID:31532594 PMID:31618474 PMID:31875159 PMID:32086284 PMID:32139178 PMID:32167590 PMID:34114611 PMID:9536098


    • An association has been curated linking Kcnt1 and autosomal dominant nocturnal frontal lobe epilepsy 5 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 KCNT1 (Homo sapiens) [(EXP) inferred from experiment]
  • 49 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 5  (DOID:0060686)
  • 4 papers in RGD have been used to annotate Kcnt1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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