PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Presenile dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750083
rs63750083
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0011265
Disease:
Presenile dementia 		0.010 GeneticVariation BEFREE We report a 35 year-old male with childhood learning disability and early onset dementia who is homozygous for the A431E variant in the PSEN1 gene. 30716424 2019