LRRK2, leucine rich repeat kinase 2, 120892

N. diseases: 231; N. variants: 74
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression. 26251043 2015
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR LRRK2 directly phosphorylates Akt1 as a possible physiological substrate: impairment of the kinase activity by Parkinson's disease-associated mutations. 21658387 2011
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. 15726496 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. 15541309 2004
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. 15680455 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR Ser1292 autophosphorylation is an indicator of LRRK2 kinase activity and contributes to the cellular effects of PD mutations. 23241745 2012
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR Quantitative assessment of the effect of LRRK2 exonic variants on the risk of Parkinson's disease: a meta-analysis. 22575234 2012
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. 18986508 2008
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy. 21538529 2011
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations. 24565865 2014
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. 16750377 2006
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 CausalMutation disease CLINVAR Dopaminergic neuronal loss, reduced neurite complexity and autophagic abnormalities in transgenic mice expressing G2019S mutant LRRK2. 21494637 2011
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.200 CausalMutation disease CLINVAR The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot. 27111571 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation group CLINVAR Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations. 24243757 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation group CLINVAR Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling. 28103901 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation group CLINVAR Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD. 16102999 2005
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation group CLINVAR Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. 18213618 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation group CLINVAR Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity. 17200152 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation group CLINVAR Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. 15541309 2004
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation group CLINVAR Disease penetrance of late-onset parkinsonism: a meta-analysis. 25330418 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.170 CausalMutation group CLINVAR LRRK2 gene in Parkinson disease: mutation analysis and case control association study. 16157901 2005
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.500 AlteredExpression disease BEFREE Further analysis of autophosphorylation will clarify the mechanism of activation of LRRK2, as well as the pathomechanism of PD in relation to overactivation of LRRK2. 19824698 2009
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.500 AlteredExpression disease BEFREE Interrogating Parkinson's disease LRRK2 kinase pathway activity by assessing Rab10 phosphorylation in human neutrophils. 29127255 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.500 AlteredExpression disease BEFREE These data suggest that Ser(1292) autophosphorylation may be a useful indicator of LRRK2 kinase activity in vivo and may contribute to the cellular effects of certain PD mutations. 23241745 2012
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.500 AlteredExpression disease BEFREE Lrrk2 mRNA expression was also measured in human striatum and substantia nigra from control subjects and patients dying with Parkinson's disease. 17614947 2007