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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking DYRK1A and Motor stereotypy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from van Bon BW, etal., Mol Psychiatry. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Epub 2015 Feb 24.
  • 12 additional annotations were made from van Bon BW, etal., Mol Psychiatry. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Epub 2015 Feb 24.
  • 283 RGD objects have been annotated to Motor stereotypy  (HP:0000733)
  • 19 papers in RGD have been used to annotate DYRK1A
  • Curation Notes: DNA:haploinsufficiency: :


    • An association has been curated linking DYRK1A and Motor stereotypy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Bronicki LM, etal., Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29.id: 24774285 Error occurred: The following PMID is not available: 24774285
  • 7 additional annotations were made from Bronicki LM, etal., Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29.id: 24774285 Error occurred: The following PMID is not available: 24774285
  • 283 RGD objects have been annotated to Motor stereotypy  (HP:0000733)
  • 19 papers in RGD have been used to annotate DYRK1A
  • Curation Notes: DNA:mutations:cds:


    • An association has been curated linking DYRK1A and Motor stereotypy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 283 RGD objects have been annotated to Motor stereotypy  (HP:0000733)
  • 19 papers in RGD have been used to annotate DYRK1A
  • Original References(s): MIM:614104 PMID:25920557 ORPHA:464311


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