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GENE - TERM ANNOTATION REPORT

17 Annotations Found.

An association has been curated linking Tp63 and EEC syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Ray AK, etal., Clin Genet. 2004 Sep;66(3):217-22.
  • The annotation has been inferred from sequence orthology with TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ray AK, etal., Clin Genet. 2004 Sep;66(3):217-22.
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: DNA:missense mutation:exon:p.R280C (955C>T) (human)


  • An association has been curated linking Tp63 and EEC syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from van Bokhoven H, etal., Am J Hum Genet. 2001 Sep;69(3):481-92. Epub 2001 Jul 17.
  • The annotation has been inferred from sequence orthology with TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from van Bokhoven H, etal., Am J Hum Genet. 2001 Sep;69(3):481-92. Epub 2001 Jul 17.
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: DNA:frameshift mutation, missense mutations:exon:multiple


  • An association has been curated linking Tp63 and EEC syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Alves LU, etal., Genet Mol Biol. 2015 Mar;38(1):37-41. doi: 10.1590/S1415-475738120140125. Epub 2014 Mar 17.
  • The annotation has been inferred from sequence orthology with TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Alves LU, etal., Genet Mol Biol. 2015 Mar;38(1):37-41. doi: 10.1590/S1415-475738120140125. Epub 2014 Mar 17.
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)


  • An association has been curated linking Tp63 and EEC syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Vernersson Lindahl E, etal., Am J Med Genet A. 2013 Aug;161A(8):1961-71. doi: 10.1002/ajmg.a.36074. Epub 2013 Jun 14.
  • The annotation has been inferred from sequence orthology with Trp63 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Vernersson Lindahl E, etal., Am J Med Genet A. 2013 Aug;161A(8):1961-71. doi: 10.1002/ajmg.a.36074. Epub 2013 Jun 14.
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: DNA:missense mutation:exon:p.R318H (mouse)


  • An association has been curated linking Tp63 and EEC syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Clements SE, etal., Br J Dermatol. 2010 Jan;162(1):201-7. doi: 10.1111/j.1365-2133.2009.09496.x. Epub 2009 Nov 9.
  • The annotation has been inferred from sequence orthology with TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Clements SE, etal., Br J Dermatol. 2010 Jan;162(1):201-7. doi: 10.1111/j.1365-2133.2009.09496.x. Epub 2009 Nov 9.
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: DNA:missense mutations: :multiple


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:11462173


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
  • Original References(s): PMID:10535733, PMID:12525544, PMID:18626511, PMID:18792980, PMID:20543567, PMID:21078104, PMID:21652629, PMID:23355676, PMID:23463580, PMID:28293528, PMID:28492532, PMID:29620206


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
  • Original References(s): PMID:16691622, PMID:25741868, PMID:28492532


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
  • Original References(s): PMID:10535733, PMID:10839977, PMID:12525544, PMID:19353588, PMID:20180707, PMID:21652629, PMID:23355676, PMID:24734328, PMID:26882220, PMID:27028492, PMID:28492532


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
  • Original References(s): PMID:10535733, PMID:10839977, PMID:11462173, PMID:12525544, PMID:12939657, PMID:18326838, PMID:18626511, PMID:19353588, PMID:20543567, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23775923, PMID:28492532


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
  • Original References(s): PMID:28492532


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
  • Original References(s): PMID:16691622, PMID:19663851, PMID:19903181, PMID:26380986, PMID:28492532


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
  • Original References(s): PMID:10535733, PMID:12525544, PMID:18626511, PMID:18792980, PMID:23355676, PMID:23463580, PMID:28293528, PMID:28492532, PMID:29620206


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
  • Original References(s): PMID:25741868


  • An association has been curated linking Tp63 and EEC 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to EEC syndrome  (DOID:0060782)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
  • Original References(s): PMID:27798044


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