Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Scn8a and developmental and epileptic encephalopathy 13 in Ictidomys tridecemlineatus.        

  • 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 SCN8A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to developmental and epileptic encephalopathy 13  (DOID:0080445)
  • 0 papers in RGD have been used to annotate Scn8a


  • An association has been curated linking Scn8a and developmental and epileptic encephalopathy 13 in Ictidomys tridecemlineatus.        

  • 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 SCN8A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to developmental and epileptic encephalopathy 13  (DOID:0080445)
  • 0 papers in RGD have been used to annotate Scn8a
  • Curation Notes: ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13
  • Original References(s): PMID:12374766 PMID:15525788 PMID:15800189 PMID:17576681 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:23708187 PMID:23934111 PMID:24194747 PMID:24352161 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25239001 PMID:25326635 PMID:25326637 PMID:25533962 PMID:25568300 PMID:25666757 PMID:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25818041 PMID:25849321 PMID:25914188 PMID:25951352 PMID:26029160 PMID:26220391 PMID:26235738 PMID:26235739 PMID:26252990 PMID:26297079 PMID:26467025 PMID:26647175 PMID:26677014 PMID:26680202 PMID:26900580 PMID:26993267 PMID:27165006 PMID:27210545 PMID:27375106 PMID:27779742 PMID:27864847 PMID:27875746 PMID:28135719 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28708303 PMID:28735751 PMID:28923014 PMID:28973083 PMID:29100083 PMID:29186148 PMID:29263050 PMID:29432985 PMID:29588952 PMID:29655203 PMID:29720203 PMID:30078772 PMID:30171078 PMID:30185235 PMID:30615093 PMID:31026061 PMID:31680123 PMID:31780880 PMID:31904124 PMID:32581362 PMID:32845893 PMID:32901917 PMID:32916281 PMID:33201365 PMID:35599849 PMID:35701389 PMID:9536098


  • Go Back to source page   Continue to Ontology report