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GENE - TERM ANNOTATION REPORT

8 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)
  • 38 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)
  • 38 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)
  • 38 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)
  • 38 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)
  • 38 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 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)
  • 38 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)
  • 38 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
  • Original References(s): PMID:10535733 PMID:10839977 PMID:10936828 PMID:11462173 PMID:12161593 PMID:12445213 PMID:12525544 PMID:12838557 PMID:12939657 PMID:15736220 PMID:16691622 PMID:16740912 PMID:17041931 PMID:17431922 PMID:17576681 PMID:18326838 PMID:18626511 PMID:18792980 PMID:19353588 PMID:19663851 PMID:19903181 PMID:20180707 PMID:20543567 PMID:20556892 PMID:21078104 PMID:21204238 PMID:21211247 PMID:21652629 PMID:22607287 PMID:23355676 PMID:23431748 PMID:23463580 PMID:23775923 PMID:24309930 PMID:24449199 PMID:24734328 PMID:25741868 PMID:25983622 PMID:26380986 PMID:26882220 PMID:27028492 PMID:27798044 PMID:28293528 PMID:28492532 PMID:29130604 PMID:29620206 PMID:30655312 PMID:30850703 PMID:31050217 PMID:32476291 PMID:32881366 PMID:36099812 PMID:36856110 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098


    • 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 or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Trp63 (Mus musculus) [(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)
  • 38 papers in RGD have been used to annotate Tp63
  • Curation Notes: OMIM:604292


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