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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking FKRP and Microcephaly in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Louhichi N, etal., Neurogenetics 2004 Feb;5(1):27-34. Epub 2003 Dec 2.
  • 7 additional annotations were made from Louhichi N, etal., Neurogenetics 2004 Feb;5(1):27-34. Epub 2003 Dec 2.
  • 1459 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: DNA:missense mutation: :p.A455D(human)


    • An association has been curated linking FKRP and Microcephaly 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
  • 1459 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 20 papers in RGD have been used to annotate FKRP
  • Original References(s): ORPHA:370968


    • An association has been curated linking FKRP and Microcephaly 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
  • 1459 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 20 papers in RGD have been used to annotate FKRP
  • Original References(s): ORPHA:370980


    • An association has been curated linking FKRP and Microcephaly 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
  • 1459 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 20 papers in RGD have been used to annotate FKRP
  • Original References(s): ORPHA:370959


    • An association has been curated linking FKRP and Microcephaly 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
  • 1459 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 20 papers in RGD have been used to annotate FKRP
  • Original References(s): MIM:606612


    • An association has been curated linking FKRP and Microcephaly 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
  • 1459 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 20 papers in RGD have been used to annotate FKRP
  • Original References(s): MIM:236670


    • An association has been curated linking FKRP and Microcephaly 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
  • 1459 RGD objects have been annotated to Microcephaly  (HP:0000252)
  • 20 papers in RGD have been used to annotate FKRP
  • Original References(s): ORPHA:899


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