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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking Kif1a and hereditary spastic paraplegia 30 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Erlich Y, etal., Genome Res. 2011 May;21(5):658-64. doi: 10.1101/gr.117143.110. Epub 2011 Apr 12.
  • The annotation has been inferred from sequence orthology with KIF1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Erlich Y, etal., Genome Res. 2011 May;21(5):658-64. doi: 10.1101/gr.117143.110. Epub 2011 Apr 12.
  • 53 RGD objects have been annotated to hereditary spastic paraplegia 30  (DOID:0110781)
  • 16 papers in RGD have been used to annotate Kif1a
  • Curation Notes: DNA:missense mutation: :p.A255V (human)


    • An association has been curated linking Kif1a and hereditary spastic paraplegia 30 in Mus musculus.        

  • 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 KIF1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 53 RGD objects have been annotated to hereditary spastic paraplegia 30  (DOID:0110781)
  • 16 papers in RGD have been used to annotate Kif1a


    • An association has been curated linking Kif1a and hereditary spastic paraplegia 30 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Klebe S, etal., Eur J Hum Genet. 2012 Jun;20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18.
  • The annotation has been inferred from sequence orthology with KIF1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Klebe S, etal., Eur J Hum Genet. 2012 Jun;20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18.
  • 53 RGD objects have been annotated to hereditary spastic paraplegia 30  (DOID:0110781)
  • 16 papers in RGD have been used to annotate Kif1a
  • Curation Notes: DNA:missense mutations: :p.A255V, p.R350G (human)


    • An association has been curated linking Kif1a and hereditary spastic paraplegia 30 in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 53 RGD objects have been annotated to hereditary spastic paraplegia 30  (DOID:0110781)
  • 16 papers in RGD have been used to annotate Kif1a
  • Curation Notes: OMIM:610357


    • An association has been curated linking Kif1a and hereditary spastic paraplegia 30 in Mus musculus.        

  • 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 KIF1A (Homo sapiens) [(EXP) inferred from experiment]
  • 53 RGD objects have been annotated to hereditary spastic paraplegia 30  (DOID:0110781)
  • 16 papers in RGD have been used to annotate Kif1a
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Kif1a and hereditary spastic paraplegia 30 in Mus musculus.        

  • 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 KIF1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 53 RGD objects have been annotated to hereditary spastic paraplegia 30  (DOID:0110781)
  • 16 papers in RGD have been used to annotate Kif1a
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive
  • Original References(s): PMID:16081310 PMID:16199547 PMID:16434418 PMID:17576681 PMID:18414213 PMID:20020533 PMID:20691407 PMID:21376300 PMID:21384162 PMID:21487076 PMID:21820098 PMID:22258533 PMID:24088041 PMID:24715439 PMID:25140959 PMID:25253658 PMID:25265257 PMID:25326635 PMID:25533962 PMID:25585697 PMID:25640679 PMID:25741868 PMID:26077850 PMID:26125038 PMID:26350204 PMID:26354034 PMID:26410750 PMID:26467025 PMID:26486474 PMID:26633545 PMID:26752160 PMID:26994895 PMID:27034427 PMID:27124789 PMID:27146152 PMID:27681307 PMID:28106320 PMID:28333917 PMID:28362824 PMID:28492532 PMID:28554332 PMID:28708303 PMID:28832565 PMID:28834584 PMID:28970574 PMID:29159194 PMID:29590070 PMID:29691679 PMID:29915382 PMID:29934652 PMID:30144970 PMID:30385166 PMID:30564185 PMID:30582020 PMID:30778698 PMID:30848064 PMID:31069529 PMID:31227335 PMID:31455732 PMID:31488895 PMID:31616253 PMID:31628766 PMID:31785789 PMID:31796088 PMID:31805580 PMID:31813911 PMID:32096284 PMID:32746806 PMID:32860008 PMID:32935419 PMID:33717719 PMID:33753861 PMID:33880452 PMID:34234304 PMID:34354735 PMID:34356170 PMID:34487232 PMID:34782662 PMID:35132656 PMID:36284339 PMID:9536098


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