Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 AlteredExpression disease BEFREE Cerebrospinal fluid soluble TREM2 levels in frontotemporal dementia differ by genetic and pathological subgroup. 30111356 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation. 29578490 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 AlteredExpression disease BEFREE We used stem cell-derived microglia to study the consequences of missense mutations in the microglial-expressed protein triggering receptor expressed on myeloid cells 2 (TREM2), which are causal for frontotemporal dementia-like syndrome and Nasu-Hakola disease. 29606617 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE TREM2 variants have also been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and frontotemporal dementia. 30033062 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Biallelic loss-of-function mutations in TYROBP and TREM2 cause a rare disease that resembles early-onset frontotemporal dementia with bone lesions called polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). 29336840 2018
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Recently, variants in TREM2 were also associated with frontotemporal dementia and Alzheimer's disease. 28716534 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE The previously reported functional mutation rs75932628-T (p.R47H) in the triggering receptor expressed on myeloid cells 2 (TREM2) is a genetic risk factor for Alzheimer's disease, Parkinson's disease (PD) and frontotemporal dementia, in European populations. 26758262 2016
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Several heterozygous missense mutations in the triggering receptor expressed on myeloid cells 2 (TREM2) have recently been linked to risk for a number of neurological disorders including Alzheimer disease (AD), Parkinson disease, and frontotemporal dementia. 26374899 2015
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE We used next generation sequencing of the whole gene (n = 700), exon 2 Sanger sequencing (n = 2634), p.R47H genotyping (n = 3518), and genome wide association study imputation (n = 13,048) to determine whether TREM2 variants are risk factors or phenotypic modifiers in patients with AD (n = 1002), frontotemporal dementia (n = 358), sporadic (n = 2500), and variant (n = 115) Creutzfeldt-Jakob disease (CJD). 25160042 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia. 24119542 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Heterozygous TREM2 mutations in frontotemporal dementia. 24139279 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Investigation of the role of rare TREM2 variants in frontotemporal dementia subtypes. 25042114 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia. 24041969 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Homozygous TREM2 mutation in a family with atypical frontotemporal dementia. 24910390 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Our results suggest that the TREM2 p.R47H substitution is a risk factor for frontotemporal dementia and Parkinson's disease in addition to Alzheimer's disease. 23800361 2013
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family. 23870839 2013
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. 23318515 2013
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.100 GeneticVariation disease BEFREE TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia. 23759145 2013