Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE Impaired serine metabolism complements LRRK2-G2019S pathogenicity in PD patients. 31621607 2019
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE Our findings indicate that the LRRK2 kinase activity is critical for neurodegeneration caused by R1441C and G2019S mutations, suggesting that kinase inhibition of LRRK2 may represent a promising therapeutic strategy for PD. 23065705 2013
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE Increased cancer risk has been reported in Parkinson's disease (PD) patients carrying the leucine rich repeat kinase 2 (LRRK2) G2019S mutation (LRRK2-PD) in comparison with idiopathic PD (IPD). 31348549 2019
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE To further characterize mitochondrial dysfunction in LRRK2(G2019S) mutant Parkinson disease (PD) patient tissue (M-LRRK2(G2019S)), determine whether ursodeoxycholic acid (UDCA) also exerts a beneficial effect on mitochondrial dysfunction in nonmanifesting LRRK2(G2019S) mutation carriers (NM-LRRK2(G2019S)), and assess UDCA for its beneficial effect on neuronal dysfunction in vivo. 26253449 2015
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE We aimed to evaluate, for the first time, the criteria in first-degree relatives of Ashkenazi Jewish G2019S-LRRK2 PD patients, who are considered a population at risk for developing PD, and assess the sensitivity and specificity of the criteria in identifying phenoconverters. 29603409 2018
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. 16272257 2005
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE In a novel cohort of Norwegian subjects with and without the G2019S-LRRK2 mutation, with and without PD, we quantified levels of pS1292-LRRK2, total LRRK2, and other exosome proteins in urine from 132 subjects and in CSF from 82 subjects. 29166931 2017
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE To gain insight into systemic molecular events associated with an age-related neurodegenerative disorder, we compared gene expression patterns in peripheral blood mononuclear cells (PBMCs) sampled from elderly, healthy controls and from Parkinson's disease (PD) patients carrying the most frequently found mutation of the LRRK2 gene (G2019S). 20096956 2011
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE Genetic testing for G2019S in sporadic late-onset Parkinson's disease can be considered in some situations and may be useful in populations with high carrier status. 19804413 2009
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE Wild-type LRRK2 (LRRK2(wt)) expression induces expression of vascular cell adhesion molecule 1 (VCAM-1) which is further exacerbated in cells expressing PD-associated LRRK2 G2019S mutants (LRRK2(G2019S)). 24788225 2015
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE The presence of hyposmia and of neuropsychiatric, dysautonomic and sleep disturbances was assessed in 33 LRRK2-G2019S-PD patients by standardized questionnaires and validated scales. 25330404 2014
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE The G2019S mutation is a risk factor in both early- and late-onset Parkinson disease and confirms the previous report of a greater frequency of the G2019S mutation in Jewish than in non-Jewish cases with Parkinson disease. 17050822 2006
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE These unexpected findings may indicate early adaptive coping mechanisms imparted by the G2019S mutation.<b>SIGNIFICANCE STATEMENT</b> The G2019S mutation in <i>LRRK2</i> causes late-onset Parkinson's disease (PD). 30249796 2018
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE We studied 25 PD patients: 12 with the LRRK2 mutation (6 G2019S and 6 R1441G), and 13 with iPD. 23764467 2013
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease. 16298482 2006
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE Olfactory dysfunction has been reported in Parkinson's disease (PD) patients carrying the LRRK2 G2019S variant in Caucasians but rarely in those with the LRRK2 G2385R variant. 27699718 2016
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE The G2019S mutation in the LRRK2 gene generates a milder PD phenotype compared with GBA-PD; however, genetic based survival studies are lacking. 30288804 2018
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE The Leucine-Rich Repeat Kinase 2 (LRRK2) Gly2019Ser mutation is frequent among Parkinson's disease (PD) patients from the Arab, Jewish, and Iberian populations, while another mutation, Arg1441Gly, is common in the Basque population. 17064949 2007
PARKINSON DISEASE, LATE-ONSET
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
0.100 GeneticVariation BEFREE Comparison of the profiles of purified iPSC-derived DaNs derived from Parkinson's disease (PD) patients carrying LRRK2 G2019S variants to controls identified significant functional convergence amongst differentially-expressed (DE) genes. 28096185 2017