GENE - TERM ANNOTATION REPORT

17 Annotations Found.

An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:21628467

  • This annotation was curated on 2019-06-12 14:03:51.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Uyanik G, etal., Neurology. 2006 Apr 11;66(7):1044-8.
  • The annotation has been inferred from sequence orthology with SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Uyanik G, etal., Neurology. 2006 Apr 11;66(7):1044-8.
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: DNA:frameshift mutations, missense mutation:cds:multiple (human)

  • This annotation was curated on 2018-04-28 09:00:47.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:17893295

  • This annotation was curated on 2019-06-12 14:04:25.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:16606917

  • This annotation was curated on 2019-06-12 14:04:25.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:18414213

  • This annotation was curated on 2019-06-12 14:04:11.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6

  • This annotation was curated on 2019-06-12 19:57:08.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:22462673

  • This annotation was curated on 2019-06-12 14:01:03.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:25741868

  • This annotation was curated on 2019-06-12 14:04:36.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:12368912

  • This annotation was curated on 2019-06-12 14:04:25.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:16606917, PMID:21628467

  • This annotation was curated on 2019-06-12 14:04:25.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000

  • This annotation was curated on 2019-06-12 14:03:39.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:20020398, PMID:25525159

  • This annotation was curated on 2019-06-12 13:57:48.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by term: Andermann syndrome
  • Original References(s): PMID:12368912, PMID:21628467, PMID:25741868

  • This annotation was curated on 2019-06-12 13:58:27.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:18414213, PMID:25741868

  • This annotation was curated on 2019-06-12 14:04:11.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by OMIM:218000
  • Original References(s): PMID:12368912, PMID:12838516, PMID:16606917, PMID:17893295, PMID:24341143

  • This annotation was curated on 2019-06-12 14:04:25.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by term: Andermann syndrome
  • Original References(s): PMID:18566107, PMID:21628467

  • This annotation was curated on 2019-06-12 14:01:37.0 by CRRD . For more information contact us

    An association has been curated linking Slc12a6 and agenesis of the corpus callosum with peripheral neuropathy 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 SLC12A6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to agenesis of the corpus callosum with peripheral neuropathy  (DOID:0090003)
  • 8 papers in CRRD have been used to annotate Slc12a6
  • Curation Notes: ClinVar Annotator: match by term: Andermann syndrome
  • Original References(s): PMID:26392352

  • This annotation was curated on 2019-06-12 13:58:55.0 by CRRD . For more information contact us

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