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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking KIF5A and hereditary spastic paraplegia in Sus scrofa.        

  • 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 441 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 0 papers in RGD have been used to annotate KIF5A
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia
  • Original References(s): PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 PMID:25008398 PMID:25695920 PMID:25741868 PMID:26467025 PMID:26543653 PMID:28492532 PMID:28708278 PMID:28832565 PMID:29892902 PMID:31211173 PMID:31403080 PMID:31475037


  • An association has been curated linking KIF5A and hereditary spastic paraplegia in Sus scrofa.        

  • 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 441 RGD objects have been annotated to hereditary spastic paraplegia  (DOID:2476)
  • 0 papers in RGD have been used to annotate KIF5A
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia
  • Original References(s): PMID:15452312 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 PMID:25008398 PMID:25695920 PMID:25741868 PMID:26467025 PMID:26543653 PMID:28492532 PMID:28678816 PMID:28708278 PMID:28832565 PMID:29892902 PMID:30057544 PMID:31211173 PMID:31403080 PMID:31475037 PMID:33059505 PMID:33310205 PMID:34715294 PMID:35578252 PMID:37524782


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