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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking FGFR3 and Dwarfism in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Matsushita M, etal., Endocrinology. 2015 Feb;156(2):548-54. doi: 10.1210/en.2014-1914. Epub 2014 Dec 2.
  • The annotation has been inferred from sequence orthology with Fgfr3 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Matsushita M, etal., Endocrinology. 2015 Feb;156(2):548-54. doi: 10.1210/en.2014-1914. Epub 2014 Dec 2.
  • 1123 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 36 papers in RGD have been used to annotate FGFR3


    • An association has been curated linking FGFR3 and Dwarfism 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:150547575 (Homo sapiens)
  • 1123 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 36 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Short stature
  • Original References(s): PMID:25741868


    • An association has been curated linking FGFR3 and Dwarfism 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:8600161 (Homo sapiens)
  • 1123 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 36 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Short stature
  • Original References(s): PMID:10360392 PMID:10361991 PMID:10395236 PMID:10777366 PMID:11055896 PMID:11754059 PMID:12707965 PMID:16912704 PMID:18198189 PMID:19088846 PMID:22045636 PMID:23149434 PMID:23165795 PMID:24715719 PMID:25614871 PMID:25741868 PMID:26380986 PMID:28492532 PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519


    • An association has been curated linking FGFR3 and Dwarfism 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:8600176 (Homo sapiens)
  • 1123 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 36 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Short stature
  • Original References(s): PMID:16912704 PMID:22903874 PMID:24411048 PMID:25741868 PMID:28492532 PMID:29595812


    • An association has been curated linking FGFR3 and Dwarfism 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:8600155 (Homo sapiens)
  • 1123 RGD objects have been annotated to Dwarfism  (DOID:9007661)
  • 36 papers in RGD have been used to annotate FGFR3
  • Curation Notes: ClinVar Annotator: match by term: Short stature
  • Original References(s): PMID:10073901 PMID:10471491 PMID:10696568 PMID:11241532 PMID:11529856 PMID:12833394 PMID:15772091 PMID:16841094 PMID:18642369 PMID:1908846 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:25741914 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:7773297 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066


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