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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Wdr19 and Senior-Loken syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Coussa RG, etal., Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196.
  • The annotation has been inferred from sequence orthology with WDR19 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Coussa RG, etal., Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196.
  • 20 RGD objects have been annotated to Senior-Loken syndrome  (DOID:0050576)
  • 11 papers in RGD have been used to annotate Wdr19
  • Curation Notes: DNA:missense mutations, frameshift mutations, snp:multiple (human)


    • An association has been curated linking Wdr19 and Senior-Loken syndrome 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]
  • 20 RGD objects have been annotated to Senior-Loken syndrome  (DOID:0050576)
  • 11 papers in RGD have been used to annotate Wdr19
  • Curation Notes: ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia | ClinVar Annotator: match by term: Senior-Loken syndrome
  • Original References(s): PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027799 PMID:24027800 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:29068549 PMID:33517396 PMID:34529350 PMID:36909829


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