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: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.700 Biomarker disease GENOMICS_ENGLAND