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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking RSPRY1 and Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  (DOID:9007161)
  • 3 papers in RGD have been used to annotate RSPRY1


    • An association has been curated linking RSPRY1 and Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 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:10450075|RGD:10450080 (Homo sapiens) & RGD:10450075|RGD:10450080 (Homo sapiens)
  • 1 RGD objects have been annotated to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  (DOID:9007161)
  • 3 papers in RGD have been used to annotate RSPRY1
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
  • Original References(s): PMID:26365341


    • An association has been curated linking RSPRY1 and Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 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:126743740|RGD:126743746|RGD:150476089|RGD:151352680|RGD:155265982 (Homo sapiens) & RGD:126743740|RGD:126743746|RGD:150476089|RGD:151352680|RGD:155265982 (Homo sapiens) & RGD:126743740|RGD:126743746|RGD:150476089|RGD:151352680|RGD:155265982 (Homo sapiens) & RGD:126743740|RGD:126743746|RGD:150476089|RGD:151352680|RGD:155265982 (Homo sapiens) & RGD:126743740|RGD:126743746|RGD:150476089|RGD:151352680|RGD:155265982 (Homo sapiens)
  • 1 RGD objects have been annotated to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  (DOID:9007161)
  • 3 papers in RGD have been used to annotate RSPRY1
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
  • Original References(s): PMID:25741868


    • An association has been curated linking RSPRY1 and Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 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:150544845 (Homo sapiens)
  • 1 RGD objects have been annotated to Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  (DOID:9007161)
  • 3 papers in RGD have been used to annotate RSPRY1
  • Curation Notes: ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type
  • Original References(s): PMID:25741868 PMID:26365341 PMID:28492532 PMID:30063090


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