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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking GNPTG and tuberous sclerosis 2 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:14709202 (Homo sapiens)
  • 132 RGD objects have been annotated to tuberous sclerosis 2  (DOID:0080325)
  • 5 papers in RGD have been used to annotate GNPTG
  • Curation Notes: ClinVar Annotator: match by term: Tuberous sclerosis 2
  • Original References(s): PMID:28492532 PMID:29932062


    • An association has been curated linking GNPTG and tuberous sclerosis 2 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:26898566|RGD:26898721 (Homo sapiens) & RGD:26898566|RGD:26898721 (Homo sapiens)
  • 132 RGD objects have been annotated to tuberous sclerosis 2  (DOID:0080325)
  • 5 papers in RGD have been used to annotate GNPTG
  • Curation Notes: ClinVar Annotator: match by term: Tuberous sclerosis 2
  • Original References(s): PMID:16114042 PMID:17287951 PMID:28492532


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