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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Wdr19 and cranioectodermal dysplasia 4 in Mus musculus.        

  • 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 WDR19 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to cranioectodermal dysplasia 4  (DOID:0080806)
  • 11 papers in RGD have been used to annotate Wdr19


    • An association has been curated linking Wdr19 and cranioectodermal dysplasia 4 in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Ashe A, etal., Hum Mol Genet. 2012 Apr 15;21(8):1808-23. doi: 10.1093/hmg/ddr613. Epub 2012 Jan 6.
  • 5 additional annotations were made from Ashe A, etal., Hum Mol Genet. 2012 Apr 15;21(8):1808-23. doi: 10.1093/hmg/ddr613. Epub 2012 Jan 6.
  • 1 RGD objects have been annotated to cranioectodermal dysplasia 4  (DOID:0080806)
  • 11 papers in RGD have been used to annotate Wdr19
  • Curation Notes: DNA:missense mutation:cds:p.L750P (mouse)


    • An association has been curated linking Wdr19 and cranioectodermal dysplasia 4 in Mus musculus.        

  • 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 WDR19 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to cranioectodermal dysplasia 4  (DOID:0080806)
  • 11 papers in RGD have been used to annotate Wdr19
  • Curation Notes: ClinVar Annotator: match by term: Cranioectodermal dysplasia 4
  • Original References(s): PMID:17576681 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:29068549 PMID:31725169 PMID:32165824 PMID:32483926 PMID:33517396 PMID:34295353 PMID:36909829 PMID:9536098


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