Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Behavioral variant of frontotemporal dementia
0.320 GeneticVariation disease BEFREE Herein, we report a Chinese Han consanguineous family carrying a novel TREM2 mutation, presenting with early-onset dementia similar to behavioral variant frontotemporal dementia with mild radiological bone involvement. 30797549 2020
Behavioral variant of frontotemporal dementia
0.320 GeneticVariation disease BEFREE Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement. 29748150 2018
Behavioral variant of frontotemporal dementia
0.320 SusceptibilityMutation disease ORPHANET Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes. 25042114 2014
Behavioral variant of frontotemporal dementia
0.320 SusceptibilityMutation disease ORPHANET Heterozygous TREM2 mutations in frontotemporal dementia. 24139279 2014