Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		0.600 GermlineCausalMutation ORPHANET Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. 11094121

2000
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 17186461

2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
Primary Progressive Nonfluent Aphasia 		0.300 GermlineCausalMutation ORPHANET A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 15122701

2004
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		0.300 GermlineCausalMutation ORPHANET Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. 11094121

2000