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GENE - TERM ANNOTATION REPORT

32 Annotations Found.

An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten


  • An association has been curated linking Pten and macrocephaly-autism syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Butler MG, etal., J Med Genet. 2005 Apr;42(4):318-21.
  • The annotation has been inferred from sequence orthology with PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Butler MG, etal., J Med Genet. 2005 Apr;42(4):318-21.
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: DNA:missense mutations:cds:p.H93R, p.D252G, p.F241S (human)


  • An association has been curated linking Pten and macrocephaly-autism syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PTEN (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15805158 PMID:17286265 PMID:17427195


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:15805158 PMID:21828076 PMID:23335809 PMID:25527629 PMID:26579216 PMID:27535533 PMID:28492532 PMID:29373119 PMID:29706350 PMID:29706633


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:10866302 PMID:15805158 PMID:20718038 PMID:21828076 PMID:22505997 PMID:24345843 PMID:24778394 PMID:25647146 PMID:26579216 PMID:27535533 PMID:28492532 PMID:29373119 PMID:29706350 PMID:29785012 PMID:9685848


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:22252256 PMID:22595938 PMID:25741868 PMID:27535533 PMID:30311381


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:25741868 PMID:32860008


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:21194675 PMID:25741868 PMID:27477328 PMID:28492532 PMID:28677221 PMID:9467011


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:10866302 PMID:17526800 PMID:17526801 PMID:22628360 PMID:24778394 PMID:25157968 PMID:25669429 PMID:25741868 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29874181


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:10400993 PMID:10555148 PMID:10920277 PMID:10923032 PMID:11504908 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16952599 PMID:17526800 PMID:17873882 PMID:18558293 PMID:18725974 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20453058 PMID:20619739 PMID:20881644 PMID:21194675 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22479427 PMID:22491738 PMID:23335809 PMID:23349303 PMID:23470840 PMID:23475934 PMID:24778394 PMID:25288137 PMID:25741868 PMID:26773036 PMID:27426521 PMID:28286253 PMID:28492532 PMID:28526761 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9598803


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:10606430 PMID:11238682 PMID:11918710 PMID:12844284 PMID:15805158 PMID:17286265 PMID:17392703 PMID:17427195 PMID:17954274 PMID:19265751 PMID:19668082 PMID:21194675 PMID:21659347 PMID:22252256 PMID:23160955 PMID:23695273 PMID:24136893 PMID:25022750 PMID:25132236 PMID:25525159 PMID:27477328 PMID:28086757 PMID:28492532 PMID:9832032


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:25326637 PMID:25741868


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:21828076 PMID:23160955 PMID:23335809 PMID:27535533


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:23160955 PMID:27535533


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:17286265


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:25741868


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:12844284 PMID:17847000 PMID:23315997 PMID:25741868 PMID:25910213 PMID:28492532


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:24088041 PMID:26633545


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:27535533 PMID:28086757


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:28526761


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:21659347 PMID:25741868 PMID:28492532


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:15805158 PMID:21828076 PMID:25527629 PMID:26579216 PMID:27535533 PMID:28492532 PMID:29706350 PMID:29785012


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:12938083 PMID:24123798


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:26443266 PMID:27535533


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:24468202 PMID:25741868 PMID:27535533 PMID:28492532 PMID:29706350


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:23160955


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:10555148 PMID:12372056 PMID:21194675 PMID:21659347 PMID:21956414 PMID:22703879 PMID:23442912 PMID:23555315 PMID:24763289 PMID:25669429 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26800850 PMID:27428751 PMID:27477328 PMID:28492532


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:11238682 PMID:11685670 PMID:12844284 PMID:14518070 PMID:15805158 PMID:17286265 PMID:17392703 PMID:17427195 PMID:19265751 PMID:19668082 PMID:21194675 PMID:21956414 PMID:22252256 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24136893 PMID:24778394 PMID:25022750 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:27477328 PMID:28492532 PMID:28526761 PMID:30287823 PMID:32238909 PMID:9399897 PMID:9467011


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:12844284 PMID:12938083 PMID:17847000 PMID:21194675 PMID:21956414 PMID:23825907 PMID:24778394 PMID:25669429 PMID:25741868 PMID:25910213 PMID:26229595


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:10848731 PMID:10923032 PMID:11274365 PMID:11504908 PMID:16773562 PMID:17286265 PMID:18767981 PMID:20085938 PMID:21194675 PMID:21956414 PMID:22266152 PMID:22381246 PMID:23335809 PMID:23470840 PMID:23764071 PMID:23934601 PMID:24033266 PMID:24345843 PMID:25157968 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28526761 PMID:28655553 PMID:9259288 PMID:9467011 PMID:9856571


  • An association has been curated linking Pten and macrocephaly-autism syndrome 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 PTEN (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to macrocephaly-autism syndrome  (DOID:0060867)
  • 125 papers in RGD have been used to annotate Pten
  • Curation Notes: ClinVar Annotator: match by term: Macrocephaly/autism syndrome
  • Original References(s): PMID:25741868 PMID:27535533


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