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GENE - TERM ANNOTATION REPORT

17 Annotations Found.

An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:10395715 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3
  • Original References(s): PMID:20736995 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:8566259 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3
  • Original References(s): PMID:11062464 PMID:11094099


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:9682237 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3
  • Original References(s): PMID:11906688 PMID:18414213 PMID:20736995 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:12913251 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:9536098


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:8690522 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:9682239 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3
  • Original References(s): PMID:21703448 PMID:25741868 PMID:28492532


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:13808897 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3
  • Original References(s): PMID:26467025 PMID:28492532


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:8570884 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3
  • Original References(s): PMID:11062464 PMID:11104662 PMID:17900292 PMID:19059498 PMID:19237585 PMID:22036597 PMID:22897520 PMID:25741868 PMID:27336596 PMID:28492532


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:10045348 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3
  • Original References(s): PMID:25741868 PMID:26475232 PMID:28492532


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:8566260 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3
  • Original References(s): PMID:11062464 PMID:11104662 PMID:17900292 PMID:18456869 PMID:22036597 PMID:25741868 PMID:28492532


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Chrnb2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: OMIM:605375


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:405291086 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3
  • Original References(s): PMID:25741916


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:10395717|RGD:126727780|RGD:404977258 (Homo sapiens) & RGD:10395717|RGD:126727780|RGD:404977258 (Homo sapiens) & RGD:10395717|RGD:126727780|RGD:404977258 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3
  • Original References(s): PMID:25741868


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:12740804|RGD:12841464|RGD:12902309|RGD:42723730 (Homo sapiens) & RGD:12740804|RGD:12841464|RGD:12902309|RGD:42723730 (Homo sapiens) & RGD:12740804|RGD:12841464|RGD:12902309|RGD:42723730 (Homo sapiens) & RGD:12740804|RGD:12841464|RGD:12902309|RGD:42723730 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3
  • Original References(s): PMID:28492532


    • An association has been curated linking CHRNB2 and autosomal dominant nocturnal frontal lobe epilepsy 3 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:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens) & RGD:10052460|RGD:10395719|RGD:10395720|RGD:10395723|RGD:127245516|RGD:12901841|RGD:13485332|RGD:13626067|RGD:13807590|RGD:14716500|RGD:243055362|RGD:26884686|RGD:38485429 (Homo sapiens)
  • 1 RGD objects have been annotated to autosomal dominant nocturnal frontal lobe epilepsy 3  (DOID:0060684)
  • 12 papers in RGD have been used to annotate CHRNB2
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3
  • Original References(s): PMID:25741868 PMID:28492532


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