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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Hspd1 and hereditary spastic paraplegia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Hansen JJ, etal., Am J Hum Genet. 2002 May;70(5):1328-32. Epub 2002 Mar 15.
  • The annotation has been inferred from sequence orthology with HSPD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Hansen JJ, etal., Am J Hum Genet. 2002 May;70(5):1328-32. Epub 2002 Mar 15.
  • 445 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 73 papers in RGD have been used to annotate Hspd1
  • Curation Notes: DNA:missense mutation: :p.V72I


  • An association has been curated linking Hspd1 and hereditary spastic paraplegia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with HSPD1 (Homo sapiens)
  • 445 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 73 papers in RGD have been used to annotate Hspd1
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutation: :p.V72I
  • Original References(s): PMID:11898127 REF_RGD_ID:1624200


  • An association has been curated linking Hspd1 and hereditary spastic paraplegia 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 HSPD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 445 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 73 papers in RGD have been used to annotate Hspd1
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia
  • Original References(s): PMID:18414213 PMID:22552817 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27630992 PMID:28492532 PMID:28832565


  • An association has been curated linking Hspd1 and hereditary spastic paraplegia 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 HSPD1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 445 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 73 papers in RGD have been used to annotate Hspd1
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive
  • Original References(s): PMID:18414213 PMID:22552817 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27630992 PMID:28166811 PMID:28492532 PMID:28832565


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