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GENE - TERM ANNOTATION REPORT

25 Annotations Found.

An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10


  • An association has been curated linking Kcnj10 and EAST syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Bockenhauer D, etal., N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.
  • The annotation has been inferred from sequence orthology with KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Bockenhauer D, etal., N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: SeSAME syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by OMIM:612780
  • Original References(s): PMID:19289823, PMID:20807765, PMID:21849804


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by OMIM:612780
  • Original References(s): PMID:21849804


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by OMIM:612780
  • Original References(s): PMID:19289823, PMID:20807765


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by OMIM:612780
  • Original References(s): PMID:19420365, PMID:20651251, PMID:20807765


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: SeSAME syndrome
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: EAST syndrome
  • Original References(s): PMID:19289823, PMID:20651251, PMID:20678478, PMID:20807765, PMID:21088294, PMID:23924083, PMID:25741868, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: EAST syndrome
  • Original References(s): PMID:21458570, PMID:27677466, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: EAST syndrome
  • Original References(s): PMID:19289823, PMID:20651251, PMID:20678478, PMID:20807765, PMID:21088294, PMID:23924083, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy
  • Original References(s): PMID:23918157, PMID:24860705, PMID:25372295, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: SeSAME syndrome
  • Original References(s): PMID:22612257, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: SeSAME syndrome
  • Original References(s): PMID:26467025, PMID:27171548, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: SeSAME syndrome
  • Original References(s): PMID:19426954, PMID:24860705, PMID:25372295, PMID:25741868, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: SeSAME syndrome
  • Original References(s): PMID:26467025, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: EAST syndrome


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: SeSAME syndrome
  • Original References(s): PMID:23869231, PMID:25741868, PMID:27677466, PMID:27875746, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: SeSAME syndrome
  • Original References(s): PMID:20651251, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: SeSAME syndrome
  • Original References(s): PMID:25741868, PMID:28492532, PMID:28747464


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: SeSAME syndrome
  • Original References(s): PMID:21458570, PMID:23965030, PMID:25741868, PMID:26467025, PMID:27182706, PMID:27535533, PMID:27677466, PMID:27884173, PMID:28492532, PMID:29615871, PMID:30304693


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy
  • Original References(s): PMID:24378235, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy
  • Original References(s): PMID:24378235, PMID:26467025, PMID:28492532


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: EAST syndrome
  • Original References(s): PMID:25741868


  • An association has been curated linking Kcnj10 and EAST syndrome 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 KCNJ10 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to EAST syndrome  (DOID:0060484)
  • 47 papers in CRRD have been used to annotate Kcnj10
  • Curation Notes: ClinVar Annotator: match by term: EAST syndrome
  • Original References(s): PMID:19289823, PMID:19420365, PMID:20651251, PMID:20807765, PMID:32581362


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.