Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GRN-related frontotemporal dementia
CUI: C3811918
Disease: GRN-related frontotemporal dementia
0.020 GeneticVariation BEFREE Screening for the LRRK2 G2019S and codon-1441 mutations in a pathological series of parkinsonian syndromes and frontotemporal lobar degeneration. 18353371 2008
GRN-related frontotemporal dementia
CUI: C3811918
Disease: GRN-related frontotemporal dementia
0.020 GeneticVariation 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