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GENE - TERM ANNOTATION REPORT

RGD ID: 1353141
Species: Homo sapiens
RGD Object: Gene
Symbol: LRRK2
Name: leucine rich repeat kinase 2
Acc ID: HP:0002067
Term: Bradykinesia
Definition: Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Definition Source(s): https://orcid.org/0000-0002-0736-9199
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 IAGP 5508399RGDDNA:missense mutations:cds:multiple 
LRRK2 IAGP 5508404RGDDNA:missense mutation:cds:p.G2019S 
LRRK2 IAGP 5508408RGDDNA:missense mutations:cds:p.R1628P, p.S1647T, p.G2385R 
LRRK2no_associationIAGP 5508406RGDDNA:missense mutation:cds:p.G2019S 
LRRK2susceptibilityIAGP 5508409RGDDNA:missense mutation:cds:p.R1398H 
LRRK2 IAGP 8699517HPO OMIM:607060
LRRK2 IAGP 8699517HPO ORPHA:2828
LRRK2 IAGP 8699517HPO ORPHA:411602
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