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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CYP2R1 and vitamin D-dependent rickets type 1B in Sus scrofa.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CYP2R1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to vitamin D-dependent rickets type 1B  (DOID:0080887)
  • 0 papers in RGD have been used to annotate CYP2R1


    • An association has been curated linking CYP2R1 and vitamin D-dependent rickets type 1B in Sus scrofa.        

  • 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 CYP2R1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to vitamin D-dependent rickets type 1B  (DOID:0080887)
  • 0 papers in RGD have been used to annotate CYP2R1
  • Curation Notes: ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 1B | ClinVar Annotator: match by term: Vitamin D hydroxylation-deficient rickets, type 1B
  • Original References(s): PMID:10969262 PMID:15128933 PMID:16549493 PMID:22855339 PMID:24033266 PMID:25741868 PMID:25741916 PMID:25942481 PMID:27716192 PMID:28492532 PMID:28548312 PMID:32115644 PMID:33715104 PMID:8201479


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