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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking CDKL5 and developmental and epileptic encephalopathy 2 in Canis lupus familiaris.        

  • 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 CDKL5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 19 RGD objects have been annotated to developmental and epileptic encephalopathy 2  (DOID:0080467)
  • 0 papers in RGD have been used to annotate CDKL5


    • An association has been curated linking CDKL5 and developmental and epileptic encephalopathy 2 in Canis lupus familiaris.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with CDKL5 (Homo sapiens)
  • 19 RGD objects have been annotated to developmental and epileptic encephalopathy 2  (DOID:0080467)
  • 0 papers in RGD have been used to annotate CDKL5
  • Qualifier: severity
  • Curation Notes: DNA:mutations:cds:
  • Original References(s): PMID:22678952 REF_RGD_ID:12791015


    • An association has been curated linking CDKL5 and developmental and epileptic encephalopathy 2 in Canis lupus familiaris.        

  • 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 CDKL5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 19 RGD objects have been annotated to developmental and epileptic encephalopathy 2  (DOID:0080467)
  • 0 papers in RGD have been used to annotate CDKL5
  • Curation Notes: ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: CDKL5-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2
  • Original References(s): PMID:10533068 PMID:15492925 PMID:15499549 PMID:15689447 PMID:15917271 PMID:16015284 PMID:16199547 PMID:16326141 PMID:16330482 PMID:16611748 PMID:16813600 PMID:17256798 PMID:17304053 PMID:17546640 PMID:17576681 PMID:17993579 PMID:18063413 PMID:18076117 PMID:18266744 PMID:18414213 PMID:18564362 PMID:18790821 PMID:18809835 PMID:19161156 PMID:19241098 PMID:19253388 PMID:19362436 PMID:19396824 PMID:19428276 PMID:19471977 PMID:19564592 PMID:19740913 PMID:19763152 PMID:19780792 PMID:19793311 PMID:19807736 PMID:20307669 PMID:20397747 PMID:20479760 PMID:20493745 PMID:20602487 PMID:20848651 PMID:21160487 PMID:21293276 PMID:21309761 PMID:21318334 PMID:21482751 PMID:21765152 PMID:21770923 PMID:21775177 PMID:21802232 PMID:22264704 PMID:22406018 PMID:22430159 PMID:22670135 PMID:22678952 PMID:22779007 PMID:22812903 PMID:22832775 PMID:22867051 PMID:22872100 PMID:22922712 PMID:22982301 PMID:23064044 PMID:23151060 PMID:23184456 PMID:23236174 PMID:23238081 PMID:23242510 PMID:23262346 PMID:23583054 PMID:23647072 PMID:23708187 PMID:23756444 PMID:23828526 PMID:23934111 PMID:24564546 PMID:24715584 PMID:25266480 PMID:25315662 PMID:25326635 PMID:25640679 PMID:25657822 PMID:25741868 PMID:25819767 PMID:26112015 PMID:26271793 PMID:26467025 PMID:26482601 PMID:26544041 PMID:26993267 PMID:27081548 PMID:27187038 PMID:27265524 PMID:27334371 PMID:27343026 PMID:27391121 PMID:27599155 PMID:27770071 PMID:27779742 PMID:27781031 PMID:27824329 PMID:27848944 PMID:28074849 PMID:28386848 PMID:28492532 PMID:28837158 PMID:29095814 PMID:29100083 PMID:29186148 PMID:29190809 PMID:29264392 PMID:29390993 PMID:29420175 PMID:29444904 PMID:29455050 PMID:29655203 PMID:29852413 PMID:30182498 PMID:30266825 PMID:30460546 PMID:30624022 PMID:30776697 PMID:30898514 PMID:30945278 PMID:30945684 PMID:31031587 PMID:31171384 PMID:31313283 PMID:31487502 PMID:31492455 PMID:31690835 PMID:31780880 PMID:31791873 PMID:33436160 PMID:33538404 PMID:34120799 PMID:34229227 PMID:34490615 PMID:36703223 PMID:9536098


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