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