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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking KIF1A and Spasticity in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Lee JR, etal., Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27.
  • 4 additional annotations were made from Lee JR, etal., Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27.
  • 1089 RGD objects have been annotated to Spasticity  (HP:0001257)
  • 12 papers in RGD have been used to annotate KIF1A
  • Curation Notes: DNA:missense mutations: :multiple


    • An association has been curated linking KIF1A and Spasticity 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
  • 1089 RGD objects have been annotated to Spasticity  (HP:0001257)
  • 12 papers in RGD have been used to annotate KIF1A
  • Original References(s): OMIM:614255


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