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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Scn1a and generalized epilepsy with febrile seizures plus 2 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Escayg A, etal., Nat Genet 2000 Apr;24(4):343-5.
  • The annotation has been inferred from sequence orthology with SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Escayg A, etal., Nat Genet 2000 Apr;24(4):343-5.
  • 1 RGD objects have been annotated to generalized epilepsy with febrile seizures plus 2  (DOID:0111294)
  • 18 papers in RGD have been used to annotate Scn1a
  • Curation Notes: DNA:missense mutations:cds:p.T875M, p.R1648H (human)


    • An association has been curated linking Scn1a and generalized epilepsy with febrile seizures plus 2 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to generalized epilepsy with febrile seizures plus 2  (DOID:0111294)
  • 18 papers in RGD have been used to annotate Scn1a


    • An association has been curated linking Scn1a and generalized epilepsy with febrile seizures plus 2 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 SCN1A (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to generalized epilepsy with febrile seizures plus 2  (DOID:0111294)
  • 18 papers in RGD have been used to annotate Scn1a
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Scn1a and generalized epilepsy with febrile seizures plus 2 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to generalized epilepsy with febrile seizures plus 2  (DOID:0111294)
  • 18 papers in RGD have been used to annotate Scn1a
  • Curation Notes: ClinVar Annotator: match by term: GEFS+, TYPE 2 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2
  • Original References(s): PMID:10486327 PMID:10521305 PMID:10742094 PMID:11118488 PMID:11254444 PMID:11254445 PMID:11359211 PMID:11524484 PMID:11567038 PMID:11756608 PMID:11940708 PMID:12083760 PMID:12086636 PMID:12566275 PMID:12576172 PMID:12610651 PMID:12754708 PMID:12821740 PMID:14504318 PMID:14672992 PMID:14702334 PMID:14738421 PMID:15277629 PMID:15508916 PMID:16075041 PMID:16199547 PMID:16210358 PMID:16326807 PMID:16359470 PMID:16380441 PMID:16458823 PMID:16505326 PMID:16525050 PMID:16541393 PMID:16713913 PMID:16713920 PMID:17054684 PMID:17166794 PMID:17347258 PMID:17561957 PMID:17576681 PMID:17903680 PMID:18021921 PMID:18056581 PMID:18076640 PMID:18413471 PMID:18414213 PMID:18554359 PMID:18566737 PMID:18755274 PMID:18804930 PMID:1893009 PMID:1893099 PMID:18930999 PMID:19236456 PMID:19359143 PMID:19522081 PMID:19563349 PMID:19585586 PMID:19586930 PMID:19589774 PMID:19673951 PMID:19809937 PMID:20100831 PMID:20110217 PMID:20194124 PMID:20301494 PMID:20431604 PMID:20522430 PMID:20550552 PMID:20600615 PMID:20729507 PMID:20831750 PMID:20879882 PMID:21248271 PMID:21371021 PMID:21396429 PMID:21713554 PMID:21719429 PMID:21864321 PMID:21868258 PMID:21906962 PMID:22011963 PMID:22050978 PMID:22071555 PMID:22092154 PMID:22150645 PMID:22151702 PMID:22156295 PMID:22409937 PMID:22550089 PMID:22612257 PMID:22780858 PMID:22848613 PMID:23195492 PMID:23398550 PMID:23398611 PMID:23527921 PMID:23808377 PMID:23821540 PMID:23884151 PMID:23895530 PMID:23917401 PMID:23934111 PMID:23945787 PMID:24066114 PMID:24136861 PMID:24168886 PMID:24277604 PMID:24328833 PMID:24337656 PMID:24412860 PMID:24464349 PMID:24502503 PMID:24656210 PMID:24679980 PMID:25243660 PMID:25326635 PMID:25348405 PMID:25378155 PMID:25401298 PMID:25525159 PMID:25576396 PMID:25741868 PMID:25754450 PMID:26096185 PMID:26169758 PMID:26188943 PMID:26467025 PMID:26544041 PMID:26699486 PMID:26845707 PMID:26990884 PMID:27231140 PMID:27236449 PMID:27267376 PMID:27465585 PMID:27734276 PMID:27781031 PMID:27864847 PMID:27959697 PMID:28079314 PMID:28084635 PMID:28148630 PMID:28150151 PMID:28192756 PMID:28202706 PMID:28387369 PMID:28488083 PMID:28492532 PMID:28735751 PMID:28794249 PMID:29100083 PMID:29141279 PMID:29141311 PMID:29186148 PMID:29190809 PMID:29358611 PMID:29573403 PMID:29655203 PMID:29739726 PMID:29745119 PMID:29760947 PMID:29852413 PMID:29930392 PMID:30034362 PMID:30142967 PMID:30321769 PMID:30525188 PMID:30558019 PMID:30619928 PMID:30659983 PMID:31031587 PMID:31164858 PMID:31618474 PMID:31755124 PMID:31765958 PMID:31782251 PMID:31791873 PMID:31864146 PMID:31875159 PMID:32056211 PMID:32090326 PMID:32238909 PMID:32581362 PMID:33278787 PMID:33391346 PMID:33895391 PMID:34489640 PMID:34645491 PMID:35074891 PMID:35082603 PMID:35571373 PMID:35663268 PMID:36158059 PMID:36684540 PMID:9126059 PMID:9536098


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