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 GeneticVariation disease BEFREE Multiple mutations in the gene for the leucine-rich repeat kinase (LRRK2) cause autosomal dominant late-onset parkinsonism (PARK8). 16254973 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation 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: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease BEFREE Mutations in PARK8 (LRRK2) are associated with autosomal dominant parkinsonism and Parkinson disease (PD). 18809839 2008
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. 15680456 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Phosphorylation of amyloid precursor protein by mutant LRRK2 promotes AICD activity and neurotoxicity in Parkinson's disease. 28720718 2017
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk. 23395371 2013
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Crystal structure of the WD40 domain dimer of LRRK2. 30635421 2019
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease BEFREE Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been identified in pedigrees of autosomal-dominant familial Parkinson's disease (PARK8). 23924436 2013
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*. 16251215 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death. 21850687 2011
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT LRRK2 R1441G in Spanish patients with Parkinson's disease. 15925109 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. 15880653 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. 16333314 2006
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT A common LRRK2 mutation in idiopathic Parkinson's disease. 15680457 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Rab29 activation of the Parkinson's disease-associated LRRK2 kinase. 29212815 2018
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT Clinical features of LRRK2-associated Parkinson's disease in central Norway. 15852371 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT G2019S LRRK2 mutation in French and North African families with Parkinson's disease. 16240353 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. 22956510 2012
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Structural interface between LRRK2 and 14-3-3 protein. 28202711 2017
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT LRRK2 mutations in Parkinson disease. 16157908 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Lrrk2 pathogenic substitutions in Parkinson's disease. 16172858 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. 16269541 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. 15732108 2005
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
PARKINSON DISEASE 8 (disorder) 		0.930 GeneticVariation disease UNIPROT Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. 15541309 2004