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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Kcna1 and episodic ataxia type 1 in Mus musculus.        

  • 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 KCNA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to episodic ataxia type 1  (DOID:0050989)
  • 8 papers in RGD have been used to annotate Kcna1


    • An association has been curated linking Kcna1 and episodic ataxia type 1 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ishida S, etal., Brain Res. 2012 Jan 30;1435:154-66. doi: 10.1016/j.brainres.2011.11.023. Epub 2011 Nov 13.
  • The annotation has been inferred from sequence orthology with Kcna1 (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 28 additional annotations were made from Ishida S, etal., Brain Res. 2012 Jan 30;1435:154-66. doi: 10.1016/j.brainres.2011.11.023. Epub 2011 Nov 13.
  • 16 RGD objects have been annotated to episodic ataxia type 1  (DOID:0050989)
  • 8 papers in RGD have been used to annotate Kcna1


    • An association has been curated linking Kcna1 and episodic ataxia type 1 in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 16 RGD objects have been annotated to episodic ataxia type 1  (DOID:0050989)
  • 8 papers in RGD have been used to annotate Kcna1
  • Curation Notes: OMIM:160120


    • An association has been curated linking Kcna1 and episodic ataxia type 1 in Mus musculus.        

  • 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 KCNA1 (Homo sapiens) [(EXP) inferred from experiment]
  • 16 RGD objects have been annotated to episodic ataxia type 1  (DOID:0050989)
  • 8 papers in RGD have been used to annotate Kcna1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Kcna1 and episodic ataxia type 1 in Mus musculus.        

  • 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 KCNA1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 16 RGD objects have been annotated to episodic ataxia type 1  (DOID:0050989)
  • 8 papers in RGD have been used to annotate Kcna1
  • Curation Notes: ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: Myokymia 1 with hypomagnesemia | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
  • Original References(s): PMID:10355668 PMID:11013453 PMID:11026449 PMID:11746627 PMID:12408867 PMID:15127317 PMID:15979945 PMID:16511644 PMID:17114047 PMID:19307729 PMID:19528245 PMID:19779067 PMID:20301785 PMID:21307345 PMID:21858020 PMID:22609616 PMID:23349320 PMID:25659636 PMID:25741868 PMID:26395884 PMID:26467025 PMID:26778656 PMID:27864847 PMID:28216637 PMID:28492532 PMID:28666963 PMID:29056246 PMID:29375859 PMID:29915382 PMID:30055040 PMID:30140249 PMID:32139178 PMID:32705822 PMID:34305802 PMID:34418069 PMID:34778950 PMID:35897654 PMID:7842011 PMID:8541859 PMID:8845167 PMID:9526001 PMID:9600245


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