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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking SLC2A4RG and early infantile epileptic encephalopathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:26889174 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 3 papers in RGD have been used to annotate SLC2A4RG
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:19822871 PMID:23360469 PMID:24811917 PMID:25052858 PMID:28492532 PMID:29215089


    • An association has been curated linking SLC2A4RG and early infantile epileptic encephalopathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:126726821 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 3 papers in RGD have been used to annotate SLC2A4RG
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:25921748 PMID:28492532 PMID:30866059


    • An association has been curated linking SLC2A4RG and early infantile epileptic encephalopathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:156438022 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 3 papers in RGD have been used to annotate SLC2A4RG
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:24811917 PMID:25921748 PMID:28492532 PMID:30866059


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