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GENE - TERM ANNOTATION REPORT

RGD ID: 1589149
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Gba1
Name: glucosylceramidase beta 1
Acc ID: DOID:14330
Term: Parkinson's disease
Definition: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Parkinson%27s_disease "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/26474316/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877503/ "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Gba1 ISOGBA1 (Homo sapiens)5508422RGDDNA:missense mutations:cds:multiple (human) 
Gba1 ISOGBA1 (Homo sapiens)5508425RGDDNA:missense mutations:cds:p.E326K, p.T369M (human) 
Gba1 ISOGBA1 (Homo sapiens)10450518RGD  
Gba1 ISOGBA1 (Homo sapiens)10450521RGD  
Gba1 ISOGBA1 (Homo sapiens)12791016RGDDNA:mutations:multiple (human) 
Gba1no_associationISOGBA1 (Homo sapiens)5508429RGDDNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human) 
Gba1onsetISOGBA1 (Homo sapiens)5508427RGDDNA:missense mutation:cds:p.N370S (human) 
Gba1 ISOGBA1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:20947659 PMID:25064009
Gba1 ISOGBA1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Susceptibility to Parkinson's DiseasePMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:12482401 PMID:1348297 PMID:14578207 PMID:14757438 PMID:15146461 PMID:15605411 PMID:15826241 PMID:16293621 PMID:16967369 PMID:17395504 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18434642 PMID:18541817 PMID:1897529 PMID:18979180 PMID:18987351 PMID:1899336 PMID:19217815 PMID:19260119 PMID:19286695 PMID:1971142 PMID:1972019 PMID:19830760 PMID:19846850 PMID:19945510 PMID:20004703 PMID:20301446 PMID:20643691 PMID:20662857 PMID:20672374 PMID:20816920 PMID:20837833 PMID:20947659 PMID:20980259 PMID:20980263 PMID:21106416 PMID:2117855 PMID:21228398 PMID:21431620 PMID:21472771 PMID:21653695 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22388998 PMID:22429443 PMID:22451204 PMID:22592100 PMID:22623374 PMID:22713811 PMID:22961873 PMID:22968580 PMID:22975760 PMID:22995991 PMID:2309702 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23642305 PMID:23676350 PMID:23699752 PMID:23719189 PMID:2378352 PMID:24020503 PMID:24022302 PMID:24033266 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24434810 PMID:24522292 PMID:2464926 PMID:24756352 PMID:25168325 PMID:25249066 PMID:25333069 PMID:25456120 PMID:25525159 PMID:25535748 PMID:25653295 PMID:2569551 PMID:25741868 PMID:25741914 PMID:26096741 PMID:26296077 PMID:26868973 PMID:26905200 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27271787 PMID:27312774 PMID:27393345 PMID:27717005 PMID:27735925 PMID:27865684 PMID:27872820 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28779532 PMID:2880291 PMID:28834018 PMID:28894968 PMID:28923368 PMID:28947706 PMID:28966932 PMID:28969384 PMID:29029963 PMID:29140481 PMID:29431110 PMID:29471591 PMID:29487000 PMID:29527153 PMID:29602947 PMID:29625627 PMID:29842932 PMID:29934114 PMID:30146349 PMID:30216542 PMID:30285649 PMID:30302829 PMID:30364808 PMID:30456712 PMID:30487145 PMID:30528841 PMID:30548430 PMID:30606667 PMID:30609409 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31188768 PMID:31216804 PMID:31561936 PMID:31996268 PMID:32014045 PMID:32042592 PMID:32618053 PMID:32658388 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33223529 PMID:33281709 PMID:33402667 PMID:33473340 PMID:3353383 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34134921 PMID:34275192 PMID:7789963 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:8929950 PMID:9375849 PMID:9516376 PMID:9554746 PMID:9556036
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