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   new 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

GENE - TERM ANNOTATION REPORT

37 Annotations Found.

An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15805193 PMID:19694741 PMID:23708187 PMID:29942082


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8591780 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:18414213 PMID:18930999 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10051235 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:20729507 PMID:26467025 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8640557 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:16525050 PMID:18930999 PMID:21864321 PMID:24277604 PMID:25576396 PMID:25741868 PMID:28084635 PMID:28150151 PMID:28492532 PMID:31782251


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8640551 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:18414213 PMID:25741868 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8640561 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:18930999 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:14731961 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:17347258 PMID:18930999 PMID:25741868 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8640560 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure disorder
  • Original References(s): PMID:11254444 PMID:12610651 PMID:14504318 PMID:25741868 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624356 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:11254444 PMID:18056581 PMID:18413471 PMID:18930999 PMID:21713554 PMID:25741868 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8569744 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:24337656 PMID:25741868 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8640578 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:12610651 PMID:18414213 PMID:21713554 PMID:22011963 PMID:25741868 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11591663 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:24464349


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8640544 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:11254445 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624371 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure disorder
  • Original References(s): PMID:11254445 PMID:18930999 PMID:19236456 PMID:19589774 PMID:20879882 PMID:21713554 PMID:25741868 PMID:26467025 PMID:26845707 PMID:26990884 PMID:27236449 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624370 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure Disorders
  • Original References(s): PMID:11254445 PMID:12610651 PMID:19200853 PMID:19522081 PMID:23195492 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624360 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:17347258 PMID:23895530 PMID:24656210 PMID:25401298 PMID:25741868 PMID:28492532 PMID:28794249 PMID:31791873 PMID:32581362


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624444 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:12566275 PMID:25741868


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10054586 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:12083760 PMID:17347258 PMID:18076640 PMID:18930999 PMID:21868258 PMID:23195492 PMID:25741868 PMID:26096185 PMID:28492532 PMID:29852413


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624455 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:20431604 PMID:25741868 PMID:26096185 PMID:30735520


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624374 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:16525050 PMID:18930999 PMID:21864321 PMID:24277604 PMID:25576396 PMID:25741868 PMID:28084635 PMID:28492532 PMID:29141311


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10054601 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:12566275 PMID:17347258 PMID:18930999 PMID:23195492 PMID:23934111 PMID:24168886 PMID:25741868 PMID:26096185 PMID:26232052 PMID:26467025 PMID:28492532 PMID:29186148


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624398 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:11254445 PMID:18021921 PMID:21396429 PMID:22550089 PMID:22780858 PMID:23398611 PMID:24679980 PMID:25741868 PMID:26990884 PMID:28492532 PMID:29358611 PMID:31765958


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624305 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:14738421 PMID:15277629 PMID:15508916 PMID:16713913 PMID:16713920 PMID:17166794 PMID:17347258 PMID:18930999 PMID:19589774 PMID:20550552 PMID:21248271 PMID:21371021 PMID:21864321 PMID:23195492 PMID:25741868 PMID:26467025 PMID:27781031 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:28885469 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:22848613 PMID:28492532 PMID:31864146


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10054702 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:17054684 PMID:17347258 PMID:18930999 PMID:23808377 PMID:25741868 PMID:26096185 PMID:27465585 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10398116 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:17347258 PMID:17561957 PMID:18930999 PMID:23195492 PMID:25741868 PMID:28492532 PMID:31864146 PMID:32090326 PMID:32581362


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624336 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:17561957 PMID:23195492 PMID:25741868 PMID:26096185 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:126912168 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:23195492 PMID:25741868 PMID:28492532 PMID:31302675


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10048706 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:12566275 PMID:16199547 PMID:17347258 PMID:18930999 PMID:20522430 PMID:22071555 PMID:22409937 PMID:23934111 PMID:25741868 PMID:28148630 PMID:28492532 PMID:29190809 PMID:32581362


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8624287 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:17054684 PMID:17347258 PMID:17561957 PMID:18930999 PMID:19585586 PMID:21868258 PMID:22848613 PMID:23934111 PMID:24502503 PMID:25741868 PMID:28492532 PMID:29186148 PMID:32090326


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10396741 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:25741868 PMID:28492532 PMID:34645491


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens) & RGD:10047879|RGD:10049827|RGD:10396781|RGD:11580865|RGD:11581077|RGD:11581211|RGD:11581700|RGD:11581868|RGD:11635779|RGD:11645619|RGD:11646267|RGD:11649424|RGD:11656969|RGD:126912782|RGD:12906912|RGD:14733409|RGD:8692707 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10403521|RGD:126909919|RGD:126911287|RGD:38491381|RGD:8640573|RGD:8640575|RGD:8640579 (Homo sapiens) & RGD:10403521|RGD:126909919|RGD:126911287|RGD:38491381|RGD:8640573|RGD:8640575|RGD:8640579 (Homo sapiens) & RGD:10403521|RGD:126909919|RGD:126911287|RGD:38491381|RGD:8640573|RGD:8640575|RGD:8640579 (Homo sapiens) & RGD:10403521|RGD:126909919|RGD:126911287|RGD:38491381|RGD:8640573|RGD:8640575|RGD:8640579 (Homo sapiens) & RGD:10403521|RGD:126909919|RGD:126911287|RGD:38491381|RGD:8640573|RGD:8640575|RGD:8640579 (Homo sapiens) & RGD:10403521|RGD:126909919|RGD:126911287|RGD:38491381|RGD:8640573|RGD:8640575|RGD:8640579 (Homo sapiens) & RGD:10403521|RGD:126909919|RGD:126911287|RGD:38491381|RGD:8640573|RGD:8640575|RGD:8640579 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8569743|RGD:8591779|RGD:8640546 (Homo sapiens) & RGD:8569743|RGD:8591779|RGD:8640546 (Homo sapiens) & RGD:8569743|RGD:8591779|RGD:8640546 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens) & RGD:11580761|RGD:11583440|RGD:11583862|RGD:11583869|RGD:11584800|RGD:11587592|RGD:11587960|RGD:11589110|RGD:11589559|RGD:11592328|RGD:11593441|RGD:11596570|RGD:11596869|RGD:11597247|RGD:11597941|RGD:11598006|RGD:11635187|RGD:11644506|RGD:11646967|RGD:11648198|RGD:11648574|RGD:11649146|RGD:11651496|RGD:11652498|RGD:11657014|RGD:11660224|RGD:127274512|RGD:153349082|RGD:153349512|RGD:153349914|RGD:153349915|RGD:155265013|RGD:21070896|RGD:21070919 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens) & RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens) & RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens) & RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens) & RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens) & RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens) & RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens) & RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens) & RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens) & RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens) & RGD:10406827|RGD:11560038|RGD:11635740|RGD:11646570|RGD:13215058|RGD:13216990|RGD:13612136|RGD:14698831|RGD:28877018|RGD:34891585|RGD:40815633 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:25741868


    • An association has been curated linking SCN1A and epilepsy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11578757|RGD:14722973 (Homo sapiens) & RGD:11578757|RGD:14722973 (Homo sapiens)
  • 3685 RGD objects have been annotated to epilepsy  (DOID:1826)
  • 8 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure
  • Original References(s): PMID:28012175 PMID:28492532


    • Go Back to source page   Continue to Ontology report