Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.070 GeneticVariation BEFREE However, we did not find evidence for association of the R47H variant with other neurodegenerative diseases. 31513029 2020
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.070 GeneticVariation BEFREE Recent genome-wide association studies revealed TREM2 rs75932628-T variant to be associated with Alzheimer's disease (AD) and other neurodegenerative diseases. 27051467 2016
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.070 GeneticVariation BEFREE A rare variant in TREM2 (p.R47H, rs75932628) was recently reported to increase the risk of Alzheimer's disease (AD) and, subsequently, other neurodegenerative diseases, i.e. frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and Parkinson's disease (PD). 25936935 2015
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.070 GeneticVariation BEFREE The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. 26076170 2015
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.070 GeneticVariation BEFREE TREM2 rs75932628 is unlikely to play a major role in the pathogenesis of these neurodegenerative diseases. 26058955 2015
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.070 GeneticVariation BEFREE Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease. 24535663 2014
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.070 GeneticVariation BEFREE With this in mind we set out to assess the genetic association of the Alzheimer's disease-related risk variant in TREM2 (rs75932628, p.R47H) with other related neurodegenerative disorders. 23800361 2013