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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Slc31a1 and NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT 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 SLC31A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT  (DOID:9008349)
  • 15 papers in RGD have been used to annotate Slc31a1


  • An association has been curated linking Slc31a1 and NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT 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 SLC31A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT  (DOID:9008349)
  • 15 papers in RGD have been used to annotate Slc31a1
  • Curation Notes: ClinVar Annotator: match by term: Neurodegeneration and seizures due to copper transport defect
  • Original References(s): PMID:25741868 PMID:35913762 PMID:36562171


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