Disease: Dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE Our results, suggest that a p.(Gly145Trp)-induced structural disturbance and functional impairment of TREM2 may contribute to the pathogenesis of an AD-like form of dementia. 31464095 2020
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE A novel homozygous mutation in TREM2 found in a Chinese early-onset dementia family with mild bone involvement. 30797549 2020
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE Recently, soluble fragments of the triggering receptor expressed on myeloid cells 2 (sTREM2) protein in CSF have been reported to be increased in prodromal AD and also in individuals with TREM2 rare genetic variants that increase the likelihood of developing dementia. 31779670 2019
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease BEFREE Triggering receptor expressed on myeloid cells 2 (TREM2) is linked to dementia and neurodegenerative disease. 30390679 2018
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease BEFREE The triggering receptor expressed on myeloid cells 2 (TREM2) is a microglial innate immune receptor associated with a lethal form of early, progressive dementia, Nasu-Hakola disease, and with an increased risk of Alzheimer's disease. 29752066 2018
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE TREM2 variant carriers showed a 23% faster rate of dementia compared with non-variant carriers. 29480181 2018
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease BEFREE We reveal an unexpected potential role of Trem2 in the homeostasis of endothelial cells that goes beyond its known functions as a microglial receptor and signaling hub, suggesting an underlying link between immune response and vascular disease in dementia. 29906661 2018
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (NHD), a rare genetic disease characterized by early-onset dementia with leukoencephalopathy and bone cysts. 29720600 2018
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease BEFREE Plasma membrane receptors play primary roles as activators of microglia and in this review, we focus on a receptor complex involving triggering receptor expressed on myeloid cells 2 (TREM2) and DNAX-activating protein of 12 kDa (DAP12), both of which are causative genes for Nasu-Hakola disease, a dementia with bone cysts. 30127720 2018
CUI: C0497327
Disease: Dementia
Dementia 		0.700 AlteredExpression disease BEFREE The selective expression of TREM2 on immune cells and its association with different forms of dementia indicate a contribution of this receptor in common pathways of neurodegeneration. 26694609 2016
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of functions mutations in the gene lead to an autosomal recessive early-onset dementia, named Nasu-Hakola disease (NHD). 26754641 2016
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE Individuals homozygous for inactivating mutations in TREM2 exhibit demyelination of subcortical white matter and a lethal early onset dementia known as Nasu-Hakola disease. 25893602 2015
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE TREM2 and TYROBP are causal genes for Nasu-Hakola disease (NHD), a rare autosomal recessive disease characterized by bone lesions and early-onset progressive dementia. 26332043 2015
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. 23150934 2013
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE These data suggest that a mutational burden in TREM2 may serve as a risk factor for neurodegenerative disease in general, and that potentially this class of TREM2 variant carriers with dementia should be considered as having a molecularly distinct form of neurodegenerative disease. 23582655 2013
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease BEFREE Our results show that TREM2 is responsible for an unexpectedly high number of dementia cases in our cohort, suggesting that this gene should be taken into account when mutations in other dementia genes are excluded. 23318515 2013
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease CTD_human To our knowledge, this is the first report of mutations in TREM2 causing a pure dementia. 18546367 2008
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE Mutations in TREM2 lead to pure early-onset dementia without bone cysts. 18546367 2008
CUI: C0497327
Disease: Dementia
Dementia 		0.700 GeneticVariation disease BEFREE In this paper, we have studied polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), an early onset dementia with bone fractures caused by mutations in TYROBP (DAP12) and TREM2 genes, which encode important signaling molecules in human dendritic cells (DCs). 17530208 2007
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease GENOMICS_ENGLAND The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. 15883308 2005
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease GENOMICS_ENGLAND