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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PRPS1 and Charcot-Marie-Tooth disease X-linked recessive 5 in Chlorocebus sabaeus.        

  • 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]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease X-linked recessive 5  (DOID:0110210)
  • 0 papers in RGD have been used to annotate PRPS1


    • An association has been curated linking PRPS1 and Charcot-Marie-Tooth disease X-linked recessive 5 in Chlorocebus sabaeus.        

  • 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]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease X-linked recessive 5  (DOID:0110210)
  • 0 papers in RGD have been used to annotate PRPS1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy
  • Original References(s): PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 PMID:25491489 PMID:25741868 PMID:28492532 PMID:32781272 PMID:33493137


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