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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking Pik3ca and CLOVES syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Lindhurst MJ, etal., Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332.
  • The annotation has been inferred from sequence orthology with PIK3CA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Lindhurst MJ, etal., Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332.
  • 1 RGD objects have been annotated to CLOVES syndrome  (DOID:0080351)
  • 43 papers in RGD have been used to annotate Pik3ca
  • Curation Notes: DNA: missense mutations: exon :p.H1047R, p.H1047L


  • An association has been curated linking Pik3ca and CLOVES 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 PIK3CA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CLOVES syndrome  (DOID:0080351)
  • 43 papers in RGD have been used to annotate Pik3ca


  • An association has been curated linking Pik3ca and CLOVES 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 PIK3CA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CLOVES syndrome  (DOID:0080351)
  • 43 papers in RGD have been used to annotate Pik3ca
  • Curation Notes: ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
  • Original References(s): PMID:24033266


  • An association has been curated linking Pik3ca and CLOVES 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 PIK3CA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CLOVES syndrome  (DOID:0080351)
  • 43 papers in RGD have been used to annotate Pik3ca
  • Curation Notes: ClinVar Annotator: match by term: CLOVES SYNDROME
  • Original References(s): PMID:15016963, PMID:15254419, PMID:15520168, PMID:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22729222, PMID:25157968, PMID:25741868, PMID:26619011, PMID:29446767


  • An association has been curated linking Pik3ca and CLOVES 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 PIK3CA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CLOVES syndrome  (DOID:0080351)
  • 43 papers in RGD have been used to annotate Pik3ca
  • Curation Notes: ClinVar Annotator: match by term: CLOVES SYNDROME
  • Original References(s): PMID:22658544, PMID:24033266, PMID:25157968, PMID:26619011, PMID:29446767


  • An association has been curated linking Pik3ca and CLOVES 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 PIK3CA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CLOVES syndrome  (DOID:0080351)
  • 43 papers in RGD have been used to annotate Pik3ca
  • Curation Notes: ClinVar Annotator: match by term: CLOVE SYNDROME
  • Original References(s): PMID:17376864, PMID:21824802, PMID:22729224, PMID:24033266, PMID:25157968, PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532


  • An association has been curated linking Pik3ca and CLOVES 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 PIK3CA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CLOVES syndrome  (DOID:0080351)
  • 43 papers in RGD have been used to annotate Pik3ca
  • Curation Notes: ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
  • Original References(s): PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22658544, PMID:22729222, PMID:23100325, PMID:24782230, PMID:25157968, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26619011, PMID:26822237, PMID:27626068, PMID:31775759


  • An association has been curated linking Pik3ca and CLOVES 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 PIK3CA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CLOVES syndrome  (DOID:0080351)
  • 43 papers in RGD have been used to annotate Pik3ca
  • Curation Notes: ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
  • Original References(s): PMID:15016963, PMID:15254419, PMID:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22357840, PMID:22658544, PMID:23066039, PMID:24559322, PMID:25157968, PMID:26619011, PMID:26851524, PMID:29446767, PMID:31775759


  • An association has been curated linking Pik3ca and CLOVES 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 PIK3CA (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to CLOVES syndrome  (DOID:0080351)
  • 43 papers in RGD have been used to annotate Pik3ca
  • Curation Notes: ClinVar Annotator: match by term: CLOVE SYNDROME
  • Original References(s): PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23888070, PMID:25157968, PMID:25741868, PMID:26619011


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.