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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PRSS1 and Familial 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:8562796 (Homo sapiens)
  • 25 RGD objects have been annotated to Familial Hypophosphatemic Rickets  (DOID:9007505)
  • 11 papers in RGD have been used to annotate PRSS1
  • Curation Notes: ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT
  • Original References(s): PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:2539344 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818


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