Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Scn8a and developmental and epileptic encephalopathy 11 in Chinchilla lanigera.        

  • 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]
  • 30 RGD objects have been annotated to developmental and epileptic encephalopathy 11  (DOID:0080421)
  • 2 papers in RGD have been used to annotate Scn8a
  • Curation Notes: ClinVar Annotator: match by term: Complex neurodevelopmental disorder
  • Original References(s): PMID:12374766 PMID:15525788 PMID:15800189 PMID:17881658 PMID:18414213 PMID:19465131 PMID:20869590 PMID:22365152 PMID:23020937 PMID:23708187 PMID:24194747 PMID:24352161 PMID:24874546 PMID:24888894 PMID:25046240 PMID:25227913 PMID:25326635 PMID:25326637 PMID:25568300 PMID:25725044 PMID:25741868 PMID:25785782 PMID:25799905 PMID:25951352 PMID:26029160 PMID:26235739 PMID:26467025 PMID:26647175 PMID:26677014 PMID:26900580 PMID:26993267 PMID:27165006 PMID:27210545 PMID:27267376 PMID:27375106 PMID:27779742 PMID:27864847 PMID:27875746 PMID:28387369 PMID:28492532 PMID:28676574 PMID:28702509 PMID:28735751 PMID:28923014 PMID:29100083 PMID:29186148 PMID:29588952 PMID:29720203 PMID:29726066 PMID:30171078 PMID:30185235 PMID:30615093 PMID:30968951 PMID:31026061 PMID:31335965 PMID:31402610 PMID:31625145 PMID:31672125 PMID:31715021 PMID:31887642 PMID:31904124 PMID:32581362 PMID:33004838 PMID:34431999 PMID:35230384


    • Go Back to source page   Continue to Ontology report