Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.030 GeneticVariation disease BEFREE Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation. 23489366 2013
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.030 GeneticVariation disease BEFREE These observations suggest that although PSEN1 mutations are the most frequent cause, the MAPT R406W mutation is an important cause of early-onset familial dementia clinically diagnosed as AD. 18587238 2008
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.030 GeneticVariation disease BEFREE Screening for PSEN1 mutations may be appropriate in cases of familial dementia even where the clinical phenotype is not typical of AD. 15534260 2004