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GENE - TERM ANNOTATION REPORT

25 Annotations Found.

An association has been curated linking Kif5a and hereditary spastic paraplegia 10 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Karle KN, etal., Neurogenetics. 2012 May;13(2):169-79. doi: 10.1007/s10048-012-0324-y. Epub 2012 Apr 1.
  • The annotation has been inferred from sequence orthology with Kif5a (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Karle KN, etal., Neurogenetics. 2012 May;13(2):169-79. doi: 10.1007/s10048-012-0324-y. Epub 2012 Apr 1.
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Fichera M, etal., Neurology. 2004 Sep 28;63(6):1108-10.
  • The annotation has been inferred from sequence orthology with KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Fichera M, etal., Neurology. 2004 Sep 28;63(6):1108-10.
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: DNA:missense mutation:cds:p.R280C (human)


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Schüle R, etal., J Neurol Neurosurg Psychiatry. 2008 May;79(5):584-7. doi: 10.1136/jnnp.2007.137596. Epub 2008 Feb 1.
  • The annotation has been inferred from sequence orthology with KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Schüle R, etal., J Neurol Neurosurg Psychiatry. 2008 May;79(5):584-7. doi: 10.1136/jnnp.2007.137596. Epub 2008 Feb 1.
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: DNA:missense mutation, deletion, snp:cds:p.K253N, p.N256del c.217G>A (human)


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Carosi L, etal., J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):702-4. doi: 10.1136/jnnp-2014-308625. Epub 2014 Oct 28.
  • The annotation has been inferred from sequence orthology with KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Carosi L, etal., J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):702-4. doi: 10.1136/jnnp-2014-308625. Epub 2014 Oct 28.
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: DNA:missense mutation:cds:p.R162W (human)


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Reid E, etal., Am J Hum Genet. 2002 Nov;71(5):1189-94. Epub 2002 Sep 24.
  • The annotation has been inferred from sequence orthology with KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Reid E, etal., Am J Hum Genet. 2002 Nov;71(5):1189-94. Epub 2002 Sep 24.
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: DNA:missense mutation:cds:p.N256S (human)


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Lynch DS, etal., Eur J Hum Genet. 2016 Jun;24(6):857-63. doi: 10.1038/ejhg.2015.200. Epub 2015 Sep 16.
  • The annotation has been inferred from sequence orthology with KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Lynch DS, etal., Eur J Hum Genet. 2016 Jun;24(6):857-63. doi: 10.1038/ejhg.2015.200. Epub 2015 Sep 16.
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: DNA:missense mutation, nonsense mutation:cds:p.L249V, p.R864* (human)


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Muglia M, etal., J Neurol Sci. 2014 Aug 15;343(1-2):218-20. doi: 10.1016/j.jns.2014.05.063. Epub 2014 Jun 5.
  • The annotation has been inferred from sequence orthology with KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Muglia M, etal., J Neurol Sci. 2014 Aug 15;343(1-2):218-20. doi: 10.1016/j.jns.2014.05.063. Epub 2014 Jun 5.
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: DNA:missense mutation:cds:p.L259Q (human)


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by OMIM:604187
  • Original References(s): PMID:21623771


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by OMIM:604187
  • Original References(s): PMID:12355402 PMID:18203753


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by OMIM:604187
  • Original References(s): PMID:25008398


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
  • Original References(s): PMID:16489470 PMID:26467025 PMID:28492532


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
  • Original References(s): PMID:18853458 PMID:28492532


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
  • Original References(s): PMID:28492532


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
  • Original References(s): PMID:15452312 PMID:18853458 PMID:25008398 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28832565 PMID:29892902


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia, autosomal dominant
  • Original References(s): PMID:26467025 PMID:28492532


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
  • Original References(s): PMID:25741868


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
  • Original References(s): PMID:15452312 PMID:18203753 PMID:18853458 PMID:25008398 PMID:26467025 PMID:29892902


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
  • Original References(s): PMID:18500496 PMID:18853458 PMID:21107874 PMID:21623771 PMID:22552817 PMID:24731568 PMID:25008398 PMID:25741868 PMID:26543653 PMID:28492532


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
  • Original References(s): PMID:26467025 PMID:28492532 PMID:28708278 PMID:31475037


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
  • Original References(s): PMID:26467025 PMID:28492532 PMID:29892902


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
  • Original References(s): PMID:16476820 PMID:18203753 PMID:18500496 PMID:18853458 PMID:21623771 PMID:25008398 PMID:28492532 PMID:29908077


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


  • An association has been curated linking Kif5a and hereditary spastic paraplegia 10 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 KIF5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to hereditary spastic paraplegia 10  (DOID:0110763)
  • 34 papers in RGD have been used to annotate Kif5a
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 10
  • Original References(s): PMID:25741868 PMID:28492532


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