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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Scn2a and developmental and epileptic encephalopathy 11 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 SCN2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 27 papers in RGD have been used to annotate Scn2a


    • An association has been curated linking Scn2a and developmental and epileptic encephalopathy 11 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 SCN2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 27 papers in RGD have been used to annotate Scn2a
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 11 | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: SCN2A-related disorder | ClinVar Annotator: match by term: SCN2A-related generalized epilepsy with febrile seizures plus
  • Original References(s): PMID:11326335 PMID:11738931 PMID:12037327 PMID:15028761 PMID:15048894 PMID:15133511 PMID:16199547 PMID:16865694 PMID:17021166 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18479388 PMID:18930999 PMID:19304393 PMID:19400878 PMID:19786696 PMID:20358599 PMID:20371507 PMID:20522430 PMID:20956790 PMID:21068128 PMID:21258341 PMID:21416599 PMID:21439835 PMID:21692795 PMID:21719429 PMID:22029951 PMID:22495306 PMID:22581653 PMID:23016767 PMID:23020937 PMID:23184456 PMID:23360469 PMID:23550958 PMID:23559409 PMID:23662938 PMID:23708187 PMID:23934111 PMID:23935176 PMID:24579881 PMID:24650168 PMID:24859339 PMID:24876116 PMID:25131622 PMID:25326635 PMID:25326637 PMID:25459969 PMID:25492405 PMID:25533962 PMID:25741868 PMID:25772804 PMID:25937001 PMID:26068938 PMID:26283219 PMID:26291284 PMID:26467025 PMID:26645390 PMID:26648591 PMID:26680202 PMID:26689363 PMID:26993267 PMID:27159988 PMID:27328862 PMID:27334371 PMID:27353043 PMID:27491411 PMID:27779742 PMID:27781031 PMID:27824329 PMID:27867041 PMID:28065826 PMID:28087622 PMID:28096396 PMID:28135719 PMID:28150151 PMID:28183995 PMID:28256214 PMID:28379373 PMID:28492532 PMID:28554332 PMID:28628100 PMID:28708303 PMID:28709814 PMID:28947817 PMID:29068549 PMID:29100083 PMID:29186148 PMID:29215089 PMID:29358611 PMID:29389947 PMID:29635106 PMID:29655203 PMID:29691040 PMID:29720203 PMID:29844171 PMID:29852413 PMID:29933521 PMID:30109124 PMID:30165711 PMID:30361185 PMID:30381472 PMID:30415926 PMID:30552426 PMID:30564305 PMID:30619928 PMID:30813884 PMID:30928199 PMID:31031587 PMID:31054490 PMID:31175295 PMID:31302675 PMID:31332282 PMID:31487502 PMID:31558572 PMID:31780880 PMID:31785789 PMID:31904120 PMID:31904126 PMID:31924505 PMID:31957018 PMID:31981491 PMID:32090326 PMID:32139178 PMID:32400968 PMID:32488064 PMID:32651551 PMID:32750235 PMID:32845893 PMID:32860008 PMID:32893078 PMID:33000761 PMID:33004838 PMID:33084218 PMID:33278787 PMID:33731876 PMID:33818783 PMID:33851778 PMID:34055682 PMID:34156984 PMID:34469436 PMID:34782754 PMID:34894057 PMID:35431799 PMID:35571021 PMID:35715422 PMID:35887114 PMID:36684540 PMID:37578743 PMID:9536098


    • An association has been curated linking Scn2a and developmental and epileptic encephalopathy 11 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 SCN2A (Homo sapiens) [(EXP) inferred from experiment]
  • 7 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 27 papers in RGD have been used to annotate Scn2a
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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