Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Wdr62 and primary autosomal recessive microcephaly in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Rupp V, etal., BMC Med Genet. 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4.
  • The annotation has been inferred from sequence orthology with WDR62 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Rupp V, etal., BMC Med Genet. 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4.
  • 34 RGD objects have been annotated to primary autosomal recessive microcephaly  (DOID:0070296)
  • 14 papers in RGD have been used to annotate Wdr62
  • Curation Notes: DNA:duplication:cds: c.2527dupG (p.D843GfsX3)(human)


  • An association has been curated linking Wdr62 and primary autosomal recessive microcephaly in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Bacino CA, etal., Am J Med Genet A. 2012 Mar;158A(3):622-5. doi: 10.1002/ajmg.a.34417. Epub 2012 Feb 3.
  • The annotation has been inferred from sequence orthology with WDR62 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Bacino CA, etal., Am J Med Genet A. 2012 Mar;158A(3):622-5. doi: 10.1002/ajmg.a.34417. Epub 2012 Feb 3.
  • 34 RGD objects have been annotated to primary autosomal recessive microcephaly  (DOID:0070296)
  • 14 papers in RGD have been used to annotate Wdr62
  • Curation Notes: DNA:missense mutation:cds:c.1198G> A(p.E400K)(human)


  • An association has been curated linking Wdr62 and primary autosomal recessive microcephaly 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 WDR62 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to primary autosomal recessive microcephaly  (DOID:0070296)
  • 14 papers in RGD have been used to annotate Wdr62
  • Curation Notes: ClinVar Annotator: match by term: Autosomal recessive primary microcephaly
  • Original References(s): PMID:20729831 PMID:21961505 PMID:23065275 PMID:24228726 PMID:25303973 PMID:25741868 PMID:28492532 PMID:28756000 PMID:31130284


  • Go Back to source page   Continue to Ontology report