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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Prps1 and Arts syndrome 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 PRPS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Arts syndrome  (DOID:0050647)
  • 22 papers in RGD have been used to annotate Prps1


    • An association has been curated linking Prps1 and Arts syndrome 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 PRPS1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Arts syndrome  (DOID:0050647)
  • 22 papers in RGD have been used to annotate Prps1
  • Curation Notes: ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
  • Original References(s): PMID:1664177 PMID:17701896 PMID:17701900 PMID:19161981 PMID:20301731 PMID:22246954 PMID:24033266 PMID:24528855 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 PMID:31906484 PMID:32781272 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830


    • An association has been curated linking Prps1 and Arts syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PRPS1 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to Arts syndrome  (DOID:0050647)
  • 22 papers in RGD have been used to annotate Prps1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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