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GENE - TERM ANNOTATION REPORT

12 Annotations Found.

An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Nishioka K, etal., Neurosci Lett. 2010 Jun 21;477(2):57-60. Epub 2009 Nov 27.
  • 4 additional annotations were made from Nishioka K, etal., Neurosci Lett. 2010 Jun 21;477(2):57-60. Epub 2009 Nov 27.
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Qualifier: no_association
  • Curation Notes: DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hu FY, etal., Eur J Neurol. 2010 Dec;17(12):1476-8. doi: 10.1111/j.1468-1331.2010.03097.x.
  • 3 additional annotations were made from Hu FY, etal., Eur J Neurol. 2010 Dec;17(12):1476-8. doi: 10.1111/j.1468-1331.2010.03097.x.
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Qualifier: onset
  • Curation Notes: DNA:missense mutation:cds:p.N370S


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Lesage S, etal., Neurology. 2011 Jan 18;76(3):301-3.
  • 3 additional annotations were made from Lesage S, etal., Neurology. 2011 Jan 18;76(3):301-3.
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Curation Notes: DNA:missense mutations:cds:multiple


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Lesage S, etal., Hum Mol Genet. 2011 Jan 1;20(1):202-10. Epub 2010 Oct 14.
  • 3 additional annotations were made from Lesage S, etal., Hum Mol Genet. 2011 Jan 1;20(1):202-10. Epub 2010 Oct 14.
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Curation Notes: DNA:missense mutations:cds:p.E326K, p.T369M


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Goker-Alpan O, etal., Acta Neuropathol. 2010 Nov;120(5):641-9. Epub 2010 Sep 14.
  • 3 additional annotations were made from Goker-Alpan O, etal., Acta Neuropathol. 2010 Nov;120(5):641-9. Epub 2010 Sep 14.
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Qualifier: severity
  • Curation Notes: DNA:missense mutations:cds:multiple


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8557988 (Homo sapiens)
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Curation Notes: ClinVar Annotator: match by term: Parkinsonism
  • Original References(s): PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:14757438 PMID:15146461 PMID:15605411 PMID:16293621 PMID:16967369 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18541817 PMID:18987351 PMID:1899336 PMID:19286695 PMID:1972019 PMID:20004703 PMID:20301446 PMID:20816920 PMID:21106416 PMID:21228398 PMID:21472771 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22623374 PMID:22713811 PMID:22975760 PMID:2309702 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23676350 PMID:23719189 PMID:2378352 PMID:24020503 PMID:24022302 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24522292 PMID:2464926 PMID:25249066 PMID:25333069 PMID:25535748 PMID:2569551 PMID:25741868 PMID:25741914 PMID:26096741 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27717005 PMID:27865684 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:2880291 PMID:28894968 PMID:28947706 PMID:28969384 PMID:29029963 PMID:29471591 PMID:29487000 PMID:29602947 PMID:29625627 PMID:29934114 PMID:30146349 PMID:30285649 PMID:30456712 PMID:30548430 PMID:30606667 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31216804 PMID:31561936 PMID:32014045 PMID:32618053 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8929950 PMID:9375849


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Original References(s): ORPHA:77259


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Original References(s): ORPHA:411602


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Original References(s): OMIM:127750


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Original References(s): OMIM:168600


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13518568 (Homo sapiens)
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Curation Notes: ClinVar Annotator: match by term: Parkinsonism
  • Original References(s): PMID:22820396 PMID:23035075 PMID:23588557 PMID:25741868 PMID:28492532 PMID:30302829 PMID:32618053 PMID:32658388


    • An association has been curated linking GBA1 and Parkinsonism in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:10049235 (Homo sapiens)
  • 164 RGD objects have been annotated to Parkinsonism  (HP:0001300)
  • 23 papers in RGD have been used to annotate GBA1
  • Curation Notes: ClinVar Annotator: match by term: Parkinsonism
  • Original References(s): PMID:10079102 PMID:11903352 PMID:12595585 PMID:12791040 PMID:15146461 PMID:15967693 PMID:16293621 PMID:18160183 PMID:1864608 PMID:20947659 PMID:21831682 PMID:22227325 PMID:22451204 PMID:22623374 PMID:23225227 PMID:24022302 PMID:24033266 PMID:25741868 PMID:26000814 PMID:26117366 PMID:26296077 PMID:27153395 PMID:27312774 PMID:28492532 PMID:29980418


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