rs63751399, PSEN1

N. diseases: 3
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
Dementia
CUI: C0497327
Disease: Dementia
0.010 GeneticVariation BEFREE Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. 11094121 2000
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
0.010 GeneticVariation BEFREE Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. 11094121 2000