rs63751399, PSEN1

N. diseases: 3
Disease: Frontotemporal dementia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.810 GeneticVariation BEFREE Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation. 15122701 2004
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.810 CausalMutation CLINVAR