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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking FKRP and Myopathy 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:8596349 (Homo sapiens)
  • 367 RGD objects have been annotated to Myopathy  (HP:0003198)
  • 20 papers in RGD have been used to annotate FKRP
  • Curation Notes: ClinVar Annotator: match by term: Myopathy
  • Original References(s): PMID:11741828 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28112097 PMID:28479227 PMID:28492532 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31268217 PMID:34008892 PMID:34653404


    • An association has been curated linking FKRP and Myopathy 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
  • 367 RGD objects have been annotated to Myopathy  (HP:0003198)
  • 20 papers in RGD have been used to annotate FKRP
  • Original References(s): ORPHA:588


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