rs63750929, PSEN1

N. diseases: 4
Disease: Alzheimer Disease, Early Onset ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.030 GeneticVariation BEFREE Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease. 31235344 2020
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.030 GeneticVariation BEFREE The Val391Gly variation widens the number of PSEN1 mutations responsible for early-onset Alzheimer's disease with extrapyramidal phenotype and would help to establish a functional map of presenilin 1 protein architecture. 28131463 2017
Alzheimer Disease, Early Onset
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
0.030 GeneticVariation BEFREE Early-onset Alzheimer disease in an Italian family with presenilin-1 double mutation E318G and G394V. 18525293 2008