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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking FKBP14 and Hypotonia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:12907268 (Homo sapiens)
  • 1925 RGD objects have been annotated to Hypotonia  (HP:0001252)
  • 5 papers in RGD have been used to annotate FKBP14
  • Curation Notes: ClinVar Annotator: match by term: Muscular hypotonia
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking FKBP14 and Hypotonia 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
  • 1925 RGD objects have been annotated to Hypotonia  (HP:0001252)
  • 5 papers in RGD have been used to annotate FKBP14
  • Original References(s): MIM:614557


    • An association has been curated linking FKBP14 and Hypotonia in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11582859 (Homo sapiens)
  • 1925 RGD objects have been annotated to Hypotonia  (HP:0001252)
  • 5 papers in RGD have been used to annotate FKBP14
  • Curation Notes: ClinVar Annotator: match by term: Hypotonia
  • Original References(s): PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464


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