rs63751287, PSEN1

N. diseases: 13
Disease: Pick Disease of the Brain ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.700 CausalMutation CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780 2018
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.700 CausalMutation CLINVAR Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. 27014058 2016
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.700 CausalMutation CLINVAR A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies. 11684347 2001