rs34637584, LRRK2

N. diseases: 78
Disease: PARKINSON DISEASE 8 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARKINSON DISEASE 8 (disorder)
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
0.810 CausalMutation CLINVAR Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression. 26251043 2015
PARKINSON DISEASE 8 (disorder)
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
0.810 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440 2013
PARKINSON DISEASE 8 (disorder)
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
0.810 CausalMutation CLINVAR Quantitative assessment of the effect of LRRK2 exonic variants on the risk of Parkinson's disease: a meta-analysis. 22575234 2012
PARKINSON DISEASE 8 (disorder)
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
0.810 GeneticVariation BEFREE Odor identification is diminished in LRRK2 G2019S mutation parkinsonism but the asymptomatic carriers of the mutation had normal olfaction. 18809839 2008
PARKINSON DISEASE 8 (disorder)
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
0.810 CausalMutation CLINVAR The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. 18986508 2008
PARKINSON DISEASE 8 (disorder)
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
0.810 CausalMutation CLINVAR Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. 15726496 2005
PARKINSON DISEASE 8 (disorder)
CUI: C1846862
Disease: PARKINSON DISEASE 8 (disorder)
0.810 CausalMutation CLINVAR Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. 15680455 2005