Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
0.320 Biomarker disease BEFREE Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD). 31381512 2019
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
0.320 GeneticVariation disease BEFREE Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease. 28447221 2017
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
0.320 Biomarker disease CTD_human Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease. 25807283 2015
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
0.320 Biomarker disease CTD_human Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. 21460840 2011