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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PHYH and vitamin D-dependent rickets type 2A in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • 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 from sequence orthology with PHYH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to vitamin D-dependent rickets type 2A  (DOID:0080884)
  • 0 papers in RGD have been used to annotate PHYH
  • Curation Notes: ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL
  • Original References(s): PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 PMID:28492532


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