LRRK2, leucine rich repeat kinase 2, 120892

N. diseases: 231; N. variants: 74
Disease: Autosomal Dominant Parkinsonism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34637584
rs34637584
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
CUI: C0752098
Disease:
Autosomal Dominant Parkinsonism 		0.020 GeneticVariation BEFREE Autosomal dominant parkinsonism (ADP) is caused in a large percentage of familial and sporadic cases by mutations in the LRRK2 gene, particularly G2019S. 17568014 2007
dbSNP: rs34637584
rs34637584
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
CUI: C0752098
Disease:
Autosomal Dominant Parkinsonism 		0.020 GeneticVariation BEFREE A referral sample of 248 affected probands from families with autosomal dominant parkinsonism was subsequently assessed; 7 (2.8%) were found to carry a heterozygous LRRK2 6055G-->A transition (G2019S). 15726496 2005
dbSNP: rs33939927
rs33939927
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
CUI: C0752098
Disease:
Autosomal Dominant Parkinsonism 		0.010 GeneticVariation BEFREE The Roc domain of the Lrrk2 protein harbors two pathogenic mutations which cause autosomal dominant parkinsonism (R1441C and R1441G). 18952485 2009