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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PHEX and autosomal dominant hypophosphatemic rickets 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:11633606 (Homo sapiens)
  • 3 RGD objects have been annotated to autosomal dominant hypophosphatemic rickets  (DOID:0050948)
  • 13 papers in RGD have been used to annotate PHEX
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets
  • Original References(s): PMID:10439971 PMID:14564066 PMID:14564077 PMID:16055933 PMID:19219621 PMID:21902834 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32329911 PMID:9199930 PMID:9768674


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