Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 Biomarker disease CTD_human We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10<sup>-10</sup>, odds ratio (OR) = 0.68, minor allele frequency (MAF)<sub>cases</sub> = 0.0059, MAF<sub>controls</sub> = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10<sup>-10</sup>, OR = 1.43, MAF<sub>cases</sub> = 0.011, MAF<sub>controls</sub> = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 × 10<sup>-14</sup>, OR = 1.67, MAF<sub>cases</sub> = 0.0143, MAF<sub>controls</sub> = 0.0089), a known susceptibility gene for Alzheimer's disease. 28714976 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 Biomarker disease GENOMICS_ENGLAND Parkinsonism, movement disorders and genetics in frontotemporal dementia. 26891767 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 Biomarker disease CTD_human Evidence of trem2 variant associated with triple risk of Alzheimer's disease. 24663666 2014
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 Biomarker disease GENOMICS_ENGLAND The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. 15883308 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 GeneticVariation disease UNIPROT Evidence of CNS β-amyloid deposition in Nasu-Hakola disease due to the TREM2 Q33X mutation. 29142083 2017
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 GeneticVariation disease UNIPROT Neurodegeneration-associated mutant TREM2 proteins abortively cycle between the ER and ER-Golgi intermediate compartment. 28768830 2017
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 Biomarker disease GENOMICS_ENGLAND Parkinsonism, movement disorders and genetics in frontotemporal dementia. 26891767 2016
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 GeneticVariation disease UNIPROT Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms. 27995897 2016
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 GeneticVariation disease UNIPROT Disease-Associated Mutations of TREM2 Alter the Processing of N-Linked Oligosaccharides in the Golgi Apparatus. 25615530 2015
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 GeneticVariation disease UNIPROT Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature. 23399524 2013
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 GeneticVariation disease UNIPROT The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. 15883308 2005
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 GeneticVariation disease UNIPROT An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. 12754369 2003
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 GeneticVariation disease UNIPROT DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. 12925681 2003
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 GeneticVariation disease UNIPROT Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. 12080485 2002
CUI: C4748657
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.510 Biomarker disease CTD_human Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. 28714976 2017
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.510 Biomarker disease CTD_human Evidence of trem2 variant associated with triple risk of Alzheimer's disease. 24663666 2014
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.510 GeneticVariation disease ORPHANET TREM2 R47H variant as a risk factor for early-onset Alzheimer's disease. 23380991 2013
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.500 Biomarker disease GENOMICS_ENGLAND Parkinsonism, movement disorders and genetics in frontotemporal dementia. 26891767 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 SusceptibilityMutation disease ORPHANET The TREM2 variant p.R47H was more common in patients with ALS than in the controls and is therefore a significant risk factor for ALS (odds ratio, 2.40; 95% CI, 1.29-4.15; P = 4.1×10-3). 24535663 2014
CUI: C1857316
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 		0.500 Biomarker disease GENOMICS_ENGLAND In Finnish and Japanese patients with PLOSL, DAP12 mutations predominate, whereas TREM2 is mutated more frequently elsewhere. 15883308 2005