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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Slc5a7 and congenital myasthenic syndrome 20 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 SLC5A7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myasthenic syndrome 20  (DOID:0110661)
  • 20 papers in RGD have been used to annotate Slc5a7
  • Curation Notes: ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynaptic
  • Original References(s): PMID:27569547

  • This annotation was curated on 2019-10-08 13:07:56.0 by RGD . For more information contact us

    An association has been curated linking Slc5a7 and congenital myasthenic syndrome 20 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 SLC5A7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myasthenic syndrome 20  (DOID:0110661)
  • 20 papers in RGD have been used to annotate Slc5a7
  • Curation Notes: ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynaptic
  • Original References(s): PMID:27569547, PMID:28492532

  • This annotation was curated on 2019-10-08 13:07:56.0 by RGD . For more information contact us

    An association has been curated linking Slc5a7 and congenital myasthenic syndrome 20 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 SLC5A7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myasthenic syndrome 20  (DOID:0110661)
  • 20 papers in RGD have been used to annotate Slc5a7
  • Curation Notes: ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynaptic
  • Original References(s): PMID:25741868, PMID:27569547

  • This annotation was curated on 2019-10-08 13:07:56.0 by RGD . For more information contact us

    An association has been curated linking Slc5a7 and congenital myasthenic syndrome 20 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 SLC5A7 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital myasthenic syndrome 20  (DOID:0110661)
  • 20 papers in RGD have been used to annotate Slc5a7

  • This annotation was curated on 2019-10-09 19:57:05.0 by RGD . 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.