PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer Disease, Early Onset ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750929
rs63750929
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
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
dbSNP: rs63750929
rs63750929
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
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
dbSNP: rs63750929
rs63750929
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
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