Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE LRRK2 Gly2385Arg polymorphism, cigarette smoking, and risk of sporadic Parkinson's disease: a case-control study in Japan. 20673920 2010
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE Gain-of-function mutations in leucine-rich repeat kinase 2 (LRRK2) cause familial as well as sporadic Parkinson's disease characterized by age-dependent degeneration of dopaminergic neurons. 20671708 2010
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. 18337586 2008
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE The R1628P and G2385R polymorphisms of the LRRK2 gene have been identified as exclusively associated with PD in Asian populations, particularly in Han Chinese population. 25511328 2015
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE The LRRK2 G2019S mutation is the most frequent known cause of familial and sporadic Parkinson's disease. 19945904 2010
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE The disposition of Aβ and tau is likely important in both LRRK2-related and sporadic PD, even during early phases of the disease. 22170881 2012
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE The "common" LRRK2 G2019S kinase domain substitution has been reported to account for approximately 5% of familial and 1% of sporadic Parkinson disease. 16966501 2006
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE In this review, we focus on the recent advances on the role of Rab GTPases in the biology of two main proteins involved in Parkinson's disease: LRRK2 and α-synuclein, given that mutations in their genes (LRRK2 and SNCA) cause familial and sporadic Parkinson's disease. 31054512 2019
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE Our results suggest that mutant (G2019S) LRRK2 activates MKK4-JNK-c-Jun pathway in the SN and causes the resulting degeneration of SNpc dopaminergic neurons in PD transgenic mice. 22539006 2012
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE The G2019S LRRK2 mutation is uncommon amongst Greek patients with sporadic Parkinson's disease. 17880562 2007
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE These findings show that the cerebral cortex in familial PD linked with G2019S LRRK2 is affected in a similar way than that seen in sporadic PD without cognitive impairment. 20232069 2010
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease. 16269443 2005
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE Patients with LRRK2 mutations had typical clinical features of PD. 17115391 2007
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE On the other hand, the constitutive mutant of LRRK2(R1441G), known to cause PD, leads to down-regulation of the same pathway. 23600457 2013
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE Common variants of LRRK2 are not associated with sporadic Parkinson's disease. 16254973 2005
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE In summary, our footprint-free LRRK2-G2019S isogenic cell lines allow standardized, genetic background independent, in vitro PD modeling and provide new insights into the role of LRRK2-G2019S and S129P-αS in the pathogenesis of PD. 28826027 2017
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE Based on these findings, Latourelle and colleagues show that the penetrance of the most common LRRK2 mutation is higher in patients with familial compared with sporadic Parkinson's disease and identified a substantial number of affected relatives of mutation carriers not presenting with a LRRK2 mutation themselves. 18986509 2008
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE To study recurrent LRRK2 mutations in a large sample of patients from Italy, including early (<50 years) and late onset familial and sporadic Parkinson's disease. 16272257 2005
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease. 16511860 2006
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE Neuritic retraction represents a prominent feature of the degenerative phenotype associated with mutations in leucine rich repeat kinase 2 (LRRK2) that are implicated in autosomal dominant and some cases of sporadic Parkinson's disease. 18182054 2008
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE LRRK2 links genetic and sporadic Parkinson's disease. 30837320 2019
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease. 17440812 2007
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE The G2019S substitution in LRRK2 is the most common genetic determinant of PD identified so far, and maps to a specific region of the kinase domain called the activation segment. 17584768 2007
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE We found a significant lower level of the LRRK2 transcript in the Substantia nigra (SN) of PD postmortem donors (n=9) who were rs66737902 C carriers (P=0.01). 24758914 2014
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
0.100 GeneticVariation disease BEFREE Mutations in leucine-rich repeat kinase 2 gene (<i>LRRK2</i>) are associated with familial and sporadic Parkinson's disease (PD). 29541021 2018