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GENE - TERM ANNOTATION REPORT

RGD ID: 1561168
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Lrrk2
Name: leucine-rich repeat kinase 2
Acc ID: DOID:9002121
Term: Spinocerebellar Ataxias
Definition: A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)
Definition Source(s): MESH:D020754
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)
Lrrk2 ISOLRRK2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar atrophyPMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 PMID:20301387 PMID:20642453 PMID:21885347 PMID:25243190 PMID:26930193 PMID:28492532
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