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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking GALNT3 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:14717636 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 6 papers in RGD have been used to annotate GALNT3
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:17561957 PMID:18479393 PMID:19400878 PMID:21719429 PMID:25253744 PMID:25524840 PMID:28492532


    • An association has been curated linking GALNT3 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:13620702 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 6 papers in RGD have been used to annotate GALNT3
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:17470132 PMID:17561957 PMID:18479393 PMID:19400878 PMID:21719429 PMID:25439579 PMID:25524840 PMID:25995458 PMID:28492532


    • An association has been curated linking GALNT3 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:14718400 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 6 papers in RGD have been used to annotate GALNT3
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:23016767 PMID:28492532


    • An association has been curated linking GALNT3 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:26888816 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 6 papers in RGD have been used to annotate GALNT3
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:17561957 PMID:21719429 PMID:28492532


    • An association has been curated linking GALNT3 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:126920471 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 6 papers in RGD have been used to annotate GALNT3
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549


    • An association has been curated linking GALNT3 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:14717341 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 6 papers in RGD have been used to annotate GALNT3
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20522430 PMID:21719429 PMID:23662938 PMID:26068938 PMID:28379373 PMID:28492532


    • An association has been curated linking GALNT3 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:156436562 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 6 papers in RGD have been used to annotate GALNT3
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:18930999 PMID:28492532


    • An association has been curated linking GALNT3 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:26891923|RGD:26895522|RGD:26896519 (Homo sapiens) & RGD:26891923|RGD:26895522|RGD:26896519 (Homo sapiens) & RGD:26891923|RGD:26895522|RGD:26896519 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 6 papers in RGD have been used to annotate GALNT3
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:21416599 PMID:21692795 PMID:23016767 PMID:23184456 PMID:26068938 PMID:28492532


    • An association has been curated linking GALNT3 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:151786462|RGD:156436564 (Homo sapiens) & RGD:151786462|RGD:156436564 (Homo sapiens)
  • 1256 RGD objects have been annotated to early infantile epileptic encephalopathy  (DOID:0050709)
  • 6 papers in RGD have been used to annotate GALNT3
  • Curation Notes: ClinVar Annotator: match by term: Early infantile epileptic encephalopathy
  • Original References(s): PMID:28492532


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