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GENE - TERM ANNOTATION REPORT

22 Annotations Found.

An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Eisenkraft A, etal., Fetal Pediatr Pathol. 2015;34(6):400-6. doi: 10.3109/15513815.2015.1095261. Epub 2015 Oct 16.
  • 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 Eisenkraft A, etal., Fetal Pediatr Pathol. 2015;34(6):400-6. doi: 10.3109/15513815.2015.1095261. Epub 2015 Oct 16.
  • 1 RGD objects have been annotated to ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: DNA:nonsense mutation: :p.Q16X (human)


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from South AP, etal., Br J Dermatol. 2002 Feb;146(2):216-20.
  • 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 South AP, etal., Br J Dermatol. 2002 Feb;146(2):216-20.
  • 1 RGD objects have been annotated to ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: DNA:missense mutation:exon:p.R279H (835G>A)


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Barrow LL, etal., J Med Genet. 2002 Aug;39(8):559-66.
  • 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 Barrow LL, etal., J Med Genet. 2002 Aug;39(8):559-66.
  • 1 RGD objects have been annotated to ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: DNA:missense mutations:exon:p.R280C, p.R304Q (human)


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Celli J, etal., Cell. 1999 Oct 15;99(2):143-53.
  • 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 Celli J, etal., Cell. 1999 Oct 15;99(2):143-53.
  • 1 RGD objects have been annotated to ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Qualifier: susceptibility
  • Curation Notes: DNA:frameshift mutation, missense mutations: :multiple


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by OMIM:604292
  • Original References(s): PMID:19903181, PMID:25983622


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by OMIM:604292
  • Original References(s): PMID:10535733


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by OMIM:604292
  • Original References(s): PMID:10936828, PMID:12838557, PMID:9028452


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:12161593


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by null
  • Original References(s): PMID:21204238


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3
  • 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3
  • Original References(s): PMID:16691622, PMID:25741868, PMID:28492532


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
  • Original References(s): PMID:25741868


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3
  • 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3
  • Original References(s): PMID:11462173, PMID:17041931, PMID:17431922, PMID:21204238, PMID:25741868, PMID:8737655, PMID:9443880


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3
  • 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3
  • Original References(s): PMID:28492532


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3
  • 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3
  • Original References(s): PMID:16691622, PMID:19663851, PMID:19903181, PMID:26380986, PMID:28492532


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3
  • Original References(s): PMID:25741868, PMID:28492532


  • An association has been curated linking Tp63 and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  (DOID:0060783)
  • 36 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3
  • 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.