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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking SCN1A and autosomal dominant nocturnal frontal lobe epilepsy in Sus scrofa.        

  • 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 106 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy  (DOID:0060681)
  • 0 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy
  • Original References(s): PMID:10486327 PMID:10742094 PMID:11118488 PMID:11940708 PMID:12083760 PMID:12086636 PMID:14702334 PMID:14738421 PMID:16458823 PMID:18930999 PMID:20100831 PMID:20522430 PMID:21844054 PMID:21864321 PMID:22151702 PMID:23195492 PMID:23808377 PMID:24277604 PMID:25378155 PMID:25741868 PMID:26096185 PMID:26467025 PMID:27267376 PMID:28084635 PMID:28150151 PMID:28492532 PMID:28842445 PMID:29655203 PMID:29760947 PMID:30525188 PMID:30659983 PMID:31782251


    • An association has been curated linking SCN1A and autosomal dominant nocturnal frontal lobe epilepsy in Sus scrofa.        

  • 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 106 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy  (DOID:0060681)
  • 0 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy
  • Original References(s): PMID:10486327 PMID:10742094 PMID:11118488 PMID:11940708 PMID:12083760 PMID:12086636 PMID:14702334 PMID:14738421 PMID:16458823 PMID:16525050 PMID:17054684 PMID:17347258 PMID:17576681 PMID:17903680 PMID:18804930 PMID:18930999 PMID:19585586 PMID:19586930 PMID:20100831 PMID:20522430 PMID:21248271 PMID:21426328 PMID:21719429 PMID:21844054 PMID:21864321 PMID:22151702 PMID:22156295 PMID:23195492 PMID:23527921 PMID:23808377 PMID:23917401 PMID:24277604 PMID:24328833 PMID:25378155 PMID:25576396 PMID:25669891 PMID:25741868 PMID:26096185 PMID:26188943 PMID:26467025 PMID:26544041 PMID:26680202 PMID:27267376 PMID:27465585 PMID:27781031 PMID:28079314 PMID:28084635 PMID:28150151 PMID:28387369 PMID:28492532 PMID:28735751 PMID:28842445 PMID:29100083 PMID:29655203 PMID:29760947 PMID:30525188 PMID:30659983 PMID:30868114 PMID:31782251 PMID:31864146 PMID:32056211 PMID:32090326 PMID:32238909 PMID:35571373 PMID:9536098


    • An association has been curated linking SCN1A and autosomal dominant nocturnal frontal lobe epilepsy in Sus scrofa.        

  • 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 106 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy  (DOID:0060681)
  • 0 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy
  • Original References(s): PMID:10486327 PMID:10742094 PMID:11118488 PMID:11940708 PMID:12083760 PMID:12086636 PMID:14702334 PMID:14738421 PMID:16458823 PMID:17347258 PMID:17903680 PMID:18930999 PMID:19585586 PMID:19586930 PMID:20522430 PMID:21248271 PMID:21844054 PMID:21864321 PMID:22151702 PMID:22156295 PMID:23195492 PMID:23527921 PMID:23808377 PMID:23917401 PMID:24277604 PMID:24328833 PMID:25378155 PMID:25741868 PMID:26096185 PMID:26188943 PMID:26467025 PMID:26680202 PMID:27267376 PMID:27465585 PMID:27781031 PMID:28084635 PMID:28150151 PMID:28492532 PMID:28735751 PMID:28842445 PMID:29760947 PMID:30525188 PMID:30659983 PMID:30868114 PMID:31782251 PMID:32238909


    • An association has been curated linking SCN1A and autosomal dominant nocturnal frontal lobe epilepsy in Sus scrofa.        

  • 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 106 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy  (DOID:0060681)
  • 0 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant epilepsy
  • Original References(s): PMID:10486327 PMID:10742094 PMID:11118488 PMID:11940708 PMID:12083760 PMID:12086636 PMID:14702334 PMID:14738421 PMID:16458823 PMID:16525050 PMID:17054684 PMID:17347258 PMID:17576681 PMID:17903680 PMID:18930999 PMID:19585586 PMID:19586930 PMID:20100831 PMID:20522430 PMID:21248271 PMID:21719429 PMID:21844054 PMID:21864321 PMID:22151702 PMID:22156295 PMID:23195492 PMID:23527921 PMID:23808377 PMID:23917401 PMID:24277604 PMID:24328833 PMID:25378155 PMID:25576396 PMID:25669891 PMID:25741868 PMID:26096185 PMID:26188943 PMID:26467025 PMID:26544041 PMID:26680202 PMID:27267376 PMID:27465585 PMID:27781031 PMID:28079314 PMID:28084635 PMID:28150151 PMID:28387369 PMID:28492532 PMID:28735751 PMID:28842445 PMID:29100083 PMID:29655203 PMID:29760947 PMID:30525188 PMID:30659983 PMID:30868114 PMID:31782251 PMID:32056211 PMID:32238909 PMID:9536098


    • An association has been curated linking SCN1A and autosomal dominant nocturnal frontal lobe epilepsy in Sus scrofa.        

  • 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 SCN1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 106 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy  (DOID:0060681)
  • 0 papers in RGD have been used to annotate SCN1A
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy
  • Original References(s): PMID:10486327 PMID:10742094 PMID:11118488 PMID:11940708 PMID:12083760 PMID:12086636 PMID:14702334 PMID:14738421 PMID:16458823 PMID:16525050 PMID:17054684 PMID:17347258 PMID:17576681 PMID:17903680 PMID:18930999 PMID:19585586 PMID:19586930 PMID:20100831 PMID:20522430 PMID:21248271 PMID:21426328 PMID:21719429 PMID:21844054 PMID:21864321 PMID:22151702 PMID:22156295 PMID:23195492 PMID:23527921 PMID:23808377 PMID:23917401 PMID:24277604 PMID:24328833 PMID:25378155 PMID:25576396 PMID:25669891 PMID:25741868 PMID:26096185 PMID:26188943 PMID:26467025 PMID:26544041 PMID:26680202 PMID:27267376 PMID:27465585 PMID:27781031 PMID:28079314 PMID:28084635 PMID:28150151 PMID:28387369 PMID:28492532 PMID:28735751 PMID:28842445 PMID:29100083 PMID:29655203 PMID:29760947 PMID:30525188 PMID:30659983 PMID:30868114 PMID:31782251 PMID:32056211 PMID:32090326 PMID:32238909 PMID:9536098


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