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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Ikbkg and ectodermal dysplasia and immunodeficiency 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ørstavik KH, etal., Am J Med Genet A. 2006 Jan 1;140(1):31-9.
  • The annotation has been inferred from sequence orthology with IKBKG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ørstavik KH, etal., Am J Med Genet A. 2006 Jan 1;140(1):31-9.
  • 2 RGD objects have been annotated to ectodermal dysplasia and immunodeficiency 1  (DOID:0081078)
  • 32 papers in RGD have been used to annotate Ikbkg
  • Curation Notes: DNA:mutation:splicing site:


    • An association has been curated linking Ikbkg and ectodermal dysplasia and immunodeficiency 1 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 IKBKG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to ectodermal dysplasia and immunodeficiency 1  (DOID:0081078)
  • 32 papers in RGD have been used to annotate Ikbkg


    • An association has been curated linking Ikbkg and ectodermal dysplasia and immunodeficiency 1 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 IKBKG (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to ectodermal dysplasia and immunodeficiency 1  (DOID:0081078)
  • 32 papers in RGD have been used to annotate Ikbkg
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Ikbkg and ectodermal dysplasia and immunodeficiency 1 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 IKBKG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to ectodermal dysplasia and immunodeficiency 1  (DOID:0081078)
  • 32 papers in RGD have been used to annotate Ikbkg
  • Curation Notes: ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 | ClinVar Annotator: match by term: Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia
  • Original References(s): PMID:11242109 PMID:11590134 PMID:15229184 PMID:15833888 PMID:16532398 PMID:16818673 PMID:16950813 PMID:17072331 PMID:17910706 PMID:18222329 PMID:18851874 PMID:19903677 PMID:21622647 PMID:24682681 PMID:25741868 PMID:26117626 PMID:28993958 PMID:29077208 PMID:30422821 PMID:31965418 PMID:33224153


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