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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:0002063
Term: Rigidity
Definition: Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
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 5508408RGDDNA:missense mutations:cds:p.R1628P, p.S1647T, p.G2385R 
LRRK2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Rigidity

 
LRRK2 IAGP 8699517HPO OMIM:607060
LRRK2 IAGP 8699517HPO ORPHA:2828
LRRK2 IAGP 8699517HPO ORPHA:411602
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