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GENE - TERM ANNOTATION REPORT

31 Annotations Found.

An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:26467025


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Bissay V, etal., Neuromuscul Disord. 2011 Aug;21(8):590-3. doi: 10.1016/j.nmd.2011.05.006. Epub 2011 Jun 12.
  • The annotation has been inferred from sequence orthology with SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bissay V, etal., Neuromuscul Disord. 2011 Aug;21(8):590-3. doi: 10.1016/j.nmd.2011.05.006. Epub 2011 Jun 12.
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: DNA: missense mutation: exon : p.L1436P


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by OMIM:608390
  • Original References(s): PMID:1338909 PMID:7980103


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium-aggravated myotonia
  • Original References(s): PMID:28166811 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:15774523 PMID:25741868 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:18414213 PMID:25741868 PMID:26467025


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SCN4A (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:16832098


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:26467025 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive
  • Original References(s): PMID:15037716 PMID:18337730 PMID:22759684 PMID:23884711 PMID:26467025 PMID:3822145 PMID:8058156 PMID:9336185


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by OMIM:608390
  • Original References(s): PMID:25741868


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by OMIM:608390


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:23884711 PMID:26467025 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:12898257 PMID:15534250 PMID:25741868 PMID:26467025 PMID:27714768 PMID:27858759 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:16392038 PMID:16832098 PMID:20713951 PMID:25088311 PMID:25311598 PMID:26080010 PMID:26944947 PMID:28492532 PMID:7473241 PMID:7980103 PMID:8308722


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Sodium channel muscle disease
  • Original References(s): PMID:18166706 PMID:21664816 PMID:21698652 PMID:23516313 PMID:23810313 PMID:23884711 PMID:25741868 PMID:26036855 PMID:26467025 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Sodium channel muscle disease
  • Original References(s): PMID:11744749 PMID:23771340 PMID:24939454 PMID:26467025 PMID:27486940 PMID:28492532 PMID:8580427 PMID:9660885


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:10218481 PMID:11744749 PMID:17334961 PMID:18337100 PMID:19840739 PMID:22653516 PMID:25724373 PMID:25741868 PMID:25839108 PMID:26467025 PMID:28492532 PMID:9392583


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:25741868 PMID:26423924 PMID:26467025 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:16392038 PMID:16786525 PMID:16832098 PMID:17823953 PMID:18166706 PMID:18337730 PMID:20713951 PMID:23771340 PMID:23810313 PMID:26080010 PMID:26467025 PMID:26885337 PMID:28492532 PMID:28877545 PMID:7473241 PMID:7980103 PMID:8308722


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:20522878 PMID:25348405 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium aggravated myotonia
  • Original References(s): PMID:18337100 PMID:28492532 PMID:29606556


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium-aggravated myotonia
  • Original References(s): PMID:1310898 PMID:16392038 PMID:16832098 PMID:17823953 PMID:18337100 PMID:18337730 PMID:20445432 PMID:20713951 PMID:22094069 PMID:25088311 PMID:25311598 PMID:25741868 PMID:26080010 PMID:26467025 PMID:26885337 PMID:26944947 PMID:27415035 PMID:28150151 PMID:28492532 PMID:7473241 PMID:7980103 PMID:8044656 PMID:8308722


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium-aggravated myotonia
  • Original References(s): PMID:11744749 PMID:16624558 PMID:18166706 PMID:23771340 PMID:23810313 PMID:25755818 PMID:26467025 PMID:28492532 PMID:7965854 PMID:8242056 PMID:9771789


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium-aggravated myotonia
  • Original References(s): PMID:20681998 PMID:26467025 PMID:28492532


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium-aggravated myotonia
  • Original References(s): PMID:18046642 PMID:20981092 PMID:25741868 PMID:28492532 PMID:7695243 PMID:9266738


  • An association has been curated linking Scn4a and Potassium Aggravated Myotonia in Rattus norvegicus.        

  • 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 SCN4A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Potassium Aggravated Myotonia  (DOID:9005884)
  • 18 papers in RGD have been used to annotate Scn4a
  • Curation Notes: ClinVar Annotator: match by term: Potassium-aggravated myotonia
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28166811 PMID:28492532


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