Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | GeneticVariation | phenotype | BEFREE | The clinical features of LRRK2-associated with PD in our patients were similar to those of idiopathic PD although most LRRK2 mutated patients presented with bradykinesia instead of tremor; 33.3% developed dementia. | 23963289 | 2014 | ||||
|
0.180 | Biomarker | phenotype | BEFREE | Although tremor is a more common presenting feature of LRRK2-PD than iPD and some nonmotor features differed in degree, the phenotype is largely overlapping. | 21753163 | 2011 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | LRRK2 mutation status and Parkinson disease motor phenotype: tremor dominant or PIGD. | 20008657 | 2009 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | Tremor was the predominant symptom in LRRK2 Gly2019Ser carriers (92% [homozygotes] vs 75% [heterozygotes] vs 69% [non-carriers]; Cochran-Armitage trend test p=0.0587). | 18539535 | 2008 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening. | 18098275 | 2008 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | In addition, we discovered a novel LRRK2 variant V1613A in a family with a tremor dominant form of AdPD; this variant was not present in controls. | 18435766 | 2008 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | We identified a LRRK2 mutation leading to the G2019S amino acid substitution in a 79-year-old woman with frontotemporal lobar degeneration with ubiquitinated neuronal intranuclear inclusions (FTLD-U/NII) and a possible family history of tremor. | 17151837 | 2007 | ||||
|
0.180 | GeneticVariation | phenotype | BEFREE | Clinically, patients with LRRK2 mutations had typical levodopa responsive Parkinsonism with tremor being the commonest presenting feature. | 17427941 | 2007 | ||||
|
0.180 | Biomarker | phenotype | HPO |