Send us a Message



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

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Cdk5rap2 and Seckel syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Yigit G, etal., Mol Genet Genomic Med. 2015 Sep;3(5):467-80. doi: 10.1002/mgg3.158. Epub 2015 May 24.
  • The annotation has been inferred from sequence orthology with CDK5RAP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 additional annotations were made from Yigit G, etal., Mol Genet Genomic Med. 2015 Sep;3(5):467-80. doi: 10.1002/mgg3.158. Epub 2015 May 24.
  • 15 RGD objects have been annotated to Seckel syndrome  (DOID:0050569)
  • 10 papers in RGD have been used to annotate Cdk5rap2
  • Curation Notes: DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human)


  • Go Back to source page   Continue to Ontology report