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GENE - TERM ANNOTATION REPORT

7 Annotations Found.

An association has been curated linking Phex and X-linked dominant hypophosphatemic rickets in Rattus norvegicus.        

  • 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 PHEX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to X-linked dominant hypophosphatemic rickets  (DOID:0050445)
  • 25 papers in RGD have been used to annotate Phex


    • An association has been curated linking Phex and X-linked dominant hypophosphatemic rickets in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Holm IA, etal., Am J Hum Genet. 1997 Apr;60(4):790-7.
  • The annotation has been inferred from sequence orthology with PHEX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Holm IA, etal., Am J Hum Genet. 1997 Apr;60(4):790-7.
  • 3 RGD objects have been annotated to X-linked dominant hypophosphatemic rickets  (DOID:0050445)
  • 25 papers in RGD have been used to annotate Phex
  • Curation Notes: DNA:mutations:cds,splice junction:


    • An association has been curated linking Phex and X-linked dominant hypophosphatemic rickets in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Owen C, etal., J Cell Biochem. 2012 Jul;113(7):2432-41. doi: 10.1002/jcb.24115.
  • The annotation has been inferred from sequence orthology with Phex (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Owen C, etal., J Cell Biochem. 2012 Jul;113(7):2432-41. doi: 10.1002/jcb.24115.
  • 3 RGD objects have been annotated to X-linked dominant hypophosphatemic rickets  (DOID:0050445)
  • 25 papers in RGD have been used to annotate Phex
  • Curation Notes: DNA:mutation:exon:p.K496X(mouse)


    • An association has been curated linking Phex and X-linked dominant hypophosphatemic rickets in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Strom TM, etal., Hum Mol Genet. 1997 Feb;6(2):165-71.
  • The annotation has been inferred from sequence orthology with Phex (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Strom TM, etal., Hum Mol Genet. 1997 Feb;6(2):165-71.
  • 3 RGD objects have been annotated to X-linked dominant hypophosphatemic rickets  (DOID:0050445)
  • 25 papers in RGD have been used to annotate Phex
  • Curation Notes: DNA:deletions:3'UTR,promoter,exons:


    • An association has been curated linking Phex and X-linked dominant hypophosphatemic rickets in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from NO_AUTHOR Nat Genet. 1995 Oct;11(2):130-6.
  • The annotation has been inferred from sequence orthology with PHEX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from NO_AUTHOR Nat Genet. 1995 Oct;11(2):130-6.
  • 3 RGD objects have been annotated to X-linked dominant hypophosphatemic rickets  (DOID:0050445)
  • 25 papers in RGD have been used to annotate Phex
  • Curation Notes: DNA:deletion,mutations:exon,splice junction:


    • An association has been curated linking Phex and X-linked dominant hypophosphatemic rickets in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Phex (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to X-linked dominant hypophosphatemic rickets  (DOID:0050445)
  • 25 papers in RGD have been used to annotate Phex
  • Curation Notes: OMIM:307800


    • An association has been curated linking Phex and X-linked dominant hypophosphatemic rickets in Rattus norvegicus.        

  • 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 PHEX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to X-linked dominant hypophosphatemic rickets  (DOID:0050445)
  • 25 papers in RGD have been used to annotate Phex
  • Curation Notes: ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets, X-linked
  • Original References(s): PMID:10439971 PMID:10737991 PMID:11004247 PMID:11468271 PMID:11502821 PMID:11502829 PMID:12414858 PMID:12727977 PMID:14564066 PMID:14564077 PMID:16055933 PMID:16199547 PMID:16303832 PMID:16636593 PMID:17576681 PMID:18162710 PMID:18252791 PMID:18625346 PMID:188828 PMID:19219621 PMID:19513579 PMID:21050253 PMID:21902834 PMID:21994957 PMID:22101457 PMID:22261628 PMID:22527485 PMID:22577109 PMID:22695891 PMID:23079138 PMID:23466123 PMID:23813354 PMID:24033266 PMID:24102521 PMID:24684036 PMID:24756041 PMID:24836714 PMID:24857004 PMID:24926462 PMID:25042154 PMID:25525159 PMID:25741868 PMID:25741895 PMID:25839938 PMID:2589938 PMID:26040324 PMID:26051471 PMID:26377240 PMID:26402641 PMID:26467025 PMID:26543054 PMID:26894575 PMID:27840894 PMID:28383812 PMID:28492532 PMID:28506344 PMID:28981921 PMID:29393334 PMID:29460029 PMID:29505567 PMID:29858904 PMID:29901142 PMID:30298485 PMID:30298486 PMID:30607568 PMID:30682568 PMID:30920082 PMID:31102713 PMID:31910300 PMID:32257293 PMID:32329911 PMID:32772199 PMID:33639975 PMID:33666701 PMID:3394683 PMID:34006472 PMID:34141703 PMID:34434907 PMID:34633109 PMID:34806794 PMID:35738466 PMID:35896147 PMID:36530187 PMID:36672821 PMID:7550339 PMID:9097956 PMID:9106524 PMID:9199930 PMID:9536098 PMID:9768646 PMID:9768674


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