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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Slc12a5 and developmental and epileptic encephalopathy 34 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 SLC12A5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 34  (DOID:0080460)
  • 21 papers in RGD have been used to annotate Slc12a5
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
  • Original References(s): PMID:28492532


  • An association has been curated linking Slc12a5 and developmental and epileptic encephalopathy 34 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 SLC12A5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 34  (DOID:0080460)
  • 21 papers in RGD have been used to annotate Slc12a5


  • An association has been curated linking Slc12a5 and developmental and epileptic encephalopathy 34 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 SLC12A5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 34  (DOID:0080460)
  • 21 papers in RGD have been used to annotate Slc12a5
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Slc12a5 and developmental and epileptic encephalopathy 34 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 SLC12A5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 34  (DOID:0080460)
  • 21 papers in RGD have been used to annotate Slc12a5
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
  • Original References(s): PMID:26333769 PMID:30763027


  • An association has been curated linking Slc12a5 and developmental and epileptic encephalopathy 34 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 SLC12A5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 34  (DOID:0080460)
  • 21 papers in RGD have been used to annotate Slc12a5
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
  • Original References(s): PMID:30763027


  • An association has been curated linking Slc12a5 and developmental and epileptic encephalopathy 34 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 SLC12A5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 34  (DOID:0080460)
  • 21 papers in RGD have been used to annotate Slc12a5
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
  • Original References(s): PMID:26333769 PMID:27436767 PMID:28492532


  • An association has been curated linking Slc12a5 and developmental and epileptic encephalopathy 34 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 SLC12A5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 34  (DOID:0080460)
  • 21 papers in RGD have been used to annotate Slc12a5
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
  • Original References(s): PMID:25741868


  • An association has been curated linking Slc12a5 and developmental and epileptic encephalopathy 34 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 SLC12A5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 34  (DOID:0080460)
  • 21 papers in RGD have been used to annotate Slc12a5
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
  • Original References(s): PMID:24668262 PMID:24928908 PMID:25741868 PMID:27535533 PMID:28492532


  • An association has been curated linking Slc12a5 and developmental and epileptic encephalopathy 34 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 SLC12A5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to developmental and epileptic encephalopathy 34  (DOID:0080460)
  • 21 papers in RGD have been used to annotate Slc12a5
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34
  • Original References(s): PMID:17576681 PMID:28492532 PMID:9536098


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