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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking CIT and primary microcephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Basit S, etal., Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12.
  • 2 additional annotations were made from Basit S, etal., Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12.
  • 58 RGD objects have been annotated to primary microcephaly  (DOID:0070297)
  • 9 papers in RGD have been used to annotate CIT
  • Qualifier: susceptibility
  • Curation Notes: DNA:splice-site mutation:intron (c.753+3A>T) (human)


    • An association has been curated linking Cit and primary microcephaly in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Basit S, etal., Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12.
  • The annotation has been inferred from sequence orthology with CIT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Basit S, etal., Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12.
  • 58 RGD objects have been annotated to primary microcephaly  (DOID:0070297)
  • 19 papers in RGD have been used to annotate Cit
  • Qualifier: susceptibility
  • Curation Notes: DNA:splice-site mutation:intron (c.753+3A>T) (human)


    • An association has been curated linking Cit and primary microcephaly in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Basit S, etal., Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12.
  • The annotation has been inferred from sequence orthology with CIT (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Basit S, etal., Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12.
  • 58 RGD objects have been annotated to primary microcephaly  (DOID:0070297)
  • 11 papers in RGD have been used to annotate Cit
  • Qualifier: susceptibility
  • Curation Notes: DNA:splice-site mutation:intron (c.753+3A>T) (human)


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