rs63750083, PSEN1

N. diseases: 13
Disease: Paraparesis, Spastic ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
0.010 GeneticVariation BEFREE Our results suggest that SP in carriers of the A431E PSEN1 mutation is a manifestation of widespread white-matter abnormalities not confined to the corticospinal tract that is at most indirectly related to the mutation's effect on amyloid precursor protein processing and amyloid deposition. 27614114 2016