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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking SCN1B and developmental and epileptic encephalopathy 52 in Pan paniscus.        

  • 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 SCN1B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to developmental and epileptic encephalopathy 52  (DOID:0080455)
  • 0 papers in RGD have been used to annotate SCN1B


    • An association has been curated linking SCN1B and developmental and epileptic encephalopathy 52 in Pan paniscus.        

  • 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 SCN1B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to developmental and epileptic encephalopathy 52  (DOID:0080455)
  • 0 papers in RGD have been used to annotate SCN1B
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52
  • Original References(s): PMID:11254444 PMID:11263970 PMID:11866477 PMID:12011299 PMID:12486163 PMID:14504340 PMID:14690046 PMID:15710580 PMID:15857929 PMID:16199547 PMID:16205844 PMID:17020904 PMID:17604911 PMID:17629415 PMID:17928445 PMID:18464934 PMID:18941776 PMID:19710327 PMID:19808477 PMID:20437590 PMID:20628201 PMID:21703448 PMID:21994374 PMID:22155597 PMID:22155598 PMID:22284586 PMID:22292491 PMID:22425777 PMID:22840528 PMID:23148524 PMID:23182416 PMID:23414114 PMID:23465283 PMID:23527921 PMID:23584539 PMID:23861362 PMID:24033266 PMID:24055113 PMID:24065921 PMID:24567321 PMID:24605816 PMID:24623842 PMID:24747835 PMID:25253298 PMID:25421039 PMID:25741868 PMID:25741909 PMID:25741913 PMID:25827112 PMID:26467025 PMID:26498160 PMID:27216889 PMID:27277800 PMID:27435932 PMID:27896052 PMID:28218389 PMID:28331474 PMID:28341588 PMID:28492532 PMID:28681755 PMID:28717674 PMID:28837624 PMID:29056246 PMID:29655203 PMID:29758173 PMID:30660056 PMID:31069529 PMID:31709768 PMID:31980526 PMID:32192759 PMID:32369273 PMID:32466254 PMID:32931854 PMID:36288729 PMID:9461582 PMID:9539778 PMID:9697698 PMID:9894880


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