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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Tp63 and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from McGrath JA, etal., Hum Mol Genet. 2001 Feb 1;10(3):221-9.
  • 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 McGrath JA, etal., Hum Mol Genet. 2001 Feb 1;10(3):221-9.
  • 1 RGD objects have been annotated to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  (DOID:0090119)
  • 38 papers in RGD have been used to annotate Tp63
  • Curation Notes: DNA:missense mutations:exon:multiple


    • An association has been curated linking Tp63 and ankyloblepharon-ectodermal defects-cleft lip/palate 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 TP63 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  (DOID:0090119)
  • 38 papers in RGD have been used to annotate Tp63


    • An association has been curated linking Tp63 and ankyloblepharon-ectodermal defects-cleft lip/palate 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 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  (DOID:0090119)
  • 38 papers in RGD have been used to annotate Tp63
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:19239083 PMID:19676059


    • An association has been curated linking Tp63 and ankyloblepharon-ectodermal defects-cleft lip/palate 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 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  (DOID:0090119)
  • 38 papers in RGD have been used to annotate Tp63
  • Curation Notes: ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
  • Original References(s): PMID:10886756 PMID:11159940 PMID:15200513 PMID:16740912 PMID:17576681 PMID:19239083 PMID:19353588 PMID:19793345 PMID:21615690 PMID:24309930 PMID:25741868 PMID:28492532 PMID:9536098 PMID:9774969


    • An association has been curated linking Tp63 and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 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 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  (DOID:0090119)
  • 38 papers in RGD have been used to annotate Tp63
  • Curation Notes: OMIM:106260


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