LRRK2, leucine rich repeat kinase 2, 120892

N. diseases: 231; N. variants: 74
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs33939927
rs33939927
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.010 GeneticVariation BEFREE Here, the objectives were to determine the frequency of LRRK2 G2019S and R1441G mutations in a PD population from southern Spain; to search for LRRK2 mutations in familial PD cases and to study the effect of PARKIN mutations on clinical features of LRRK2-associated; PD. 19473361 2009
dbSNP: rs34637584
rs34637584
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
CUI: C1868675
Disease:
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		0.010 GeneticVariation BEFREE One G2019S carrier also had a homozygous PARKIN deletion, who had early onset PD with clinical symptoms similar to those with PARKIN-associated PD. 19473361 2009