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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking PTEN and Proteus syndrome in Homo sapiens.        

  • The association was inferred from experiment (EXP)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 2 RGD objects have been annotated to Proteus syndrome  (DOID:13482)
  • 127 papers in RGD have been used to annotate PTEN
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11748304 PMID:12471211 PMID:17427195


  • An association has been curated linking PTEN and Proteus syndrome 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:8560145 (Homo sapiens)
  • 2 RGD objects have been annotated to Proteus syndrome  (DOID:13482)
  • 127 papers in RGD have been used to annotate PTEN
  • Curation Notes: ClinVar Annotator: match by term: Proteus-like syndrome
  • Original References(s): PMID:12471211 PMID:14518070 PMID:27535533


  • An association has been curated linking PTEN and Proteus syndrome 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:8597684 (Homo sapiens)
  • 2 RGD objects have been annotated to Proteus syndrome  (DOID:13482)
  • 127 papers in RGD have been used to annotate PTEN
  • Curation Notes: ClinVar Annotator: match by term: Proteus-like syndrome
  • Original References(s): PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11918710 PMID:14518070 PMID:17392703 PMID:18558293 PMID:20301661 PMID:21956414 PMID:22381246 PMID:22595938 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25326635 PMID:25549896 PMID:25669429 PMID:25741868 PMID:25756585 PMID:27477328 PMID:27959697 PMID:28492532 PMID:28526761 PMID:30287823 PMID:30614812 PMID:32238909 PMID:33077954 PMID:33600059 PMID:9399897 PMID:9467011


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