Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Dominant Parkinsonism
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
Autosomal Dominant Parkinsonism
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